#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16.0	18.0	18.0					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		12	110	0	0	0	1	0	12	110				
PRKCB	5579	broad.mit.edu	37	16	24104167	24104167	+	Silent	SNP	C	C	T	rs543897172		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:24104167C>T	ENST00000321728.7	+	6	760	c.585C>T	c.(583-585)taC>taT	p.Y195Y	PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000303531.7_Silent_p.Y195Y	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	195	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CAGATCCCTACGTAAAACTGA	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		22602	0.0		0.0	False		,,,				2504	0.001					ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(583-585)taC>taT		protein kinase C, beta	Vitamin E(DB00163)						171.0	149.0	156.0					16																	24104167		2197	4300	6497	SO:0001819	synonymous_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24104167C>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.585C>T	16.37:g.24104167C>T						PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000321728.7_Silent_p.Y195Y	p.Y195Y	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			6	737	+			195			C2.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	c.585C>T	CCDS10618.1																																																																																				0.408	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		33	485	0	0	0	1	0	33	485				
IGDCC3	9543	broad.mit.edu	37	15	65627671	65627671	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr15:65627671C>T	ENST00000327987.4	-	4	894	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	215	Ig-like C2-type 2.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CGGATACTGGCGATGTTTGAG	0.607																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(643-645)Gcc>Acc		immunoglobulin superfamily, DCC subclass, member 3							156.0	132.0	140.0					15																	65627671		2201	4299	6500	SO:0001583	missense	9543							g.chr15:65627671C>T	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.643G>A	15.37:g.65627671C>T	ENSP00000332773:p.Ala215Thr						p.A215T	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			4	894	-			215			Ig-like C2-type 2.		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.643G>A	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	C	32	5.177452	0.94846	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.67865	-0.29	5.51	5.51	0.81932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84678	0.5525	M	0.89214	3.015	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	D	0.87153	0.2210	10	0.66056	D	0.02	-37.995	18.1992	0.89832	0.0:1.0:0.0:0.0	.	215	Q8IVU1	IGDC3_HUMAN	T	215;78	ENSP00000332773:A215T	ENSP00000332773:A215T	A	-	1	0	IGDCC3	63414724	1.000000	0.71417	0.951000	0.38953	0.673000	0.39480	7.523000	0.81856	2.568000	0.86640	0.655000	0.94253	GCC		0.607	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		5	508	0	0	0	1	0	5	508				
PSG6	5675	broad.mit.edu	37	19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:43411250G>A	ENST00000292125.2	-	5	1108	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	PSG6_ENST00000187910.2_Missense_Mutation_p.A355V|PSG6_ENST00000402603.4_Missense_Mutation_p.A262V	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	355	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTTAGAGTCCGCAAAGCAGGA	0.448																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1063-1065)gCg>gTg		pregnancy specific beta-1-glycoprotein 6							185.0	196.0	192.0					19																	43411250		2201	4299	6500	SO:0001583	missense	5675							g.chr19:43411250G>A		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.1064C>T	19.37:g.43411250G>A	ENSP00000292125:p.Ala355Val					PSG6_ENST00000402603.4_Missense_Mutation_p.A262V|PSG6_ENST00000292125.2_Missense_Mutation_p.A355V	p.A355V	NM_001031850.3	NP_001027020.1					5	1129	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.1064C>T	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	9.184	1.024244	0.19433	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125	T;T;T	0.14144	2.53;2.53;2.53	1.54	1.54	0.23209	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13500	0.0327	L	0.50847	1.595	0.09310	N	0.999998	B;B;B	0.34372	0.132;0.292;0.451	B;B;B	0.36244	0.184;0.22;0.185	T	0.20840	-1.0263	9	0.59425	D	0.04	.	6.5495	0.22425	0.0:0.0:1.0:0.0	.	355;355;262	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	V	355;262;355	ENSP00000187910:A355V;ENSP00000385736:A262V;ENSP00000292125:A355V	ENSP00000187910:A355V	A	-	2	0	PSG6	48103090	0.001000	0.12720	0.002000	0.10522	0.014000	0.08584	0.729000	0.26028	0.854000	0.35336	0.134000	0.15878	GCG		0.448	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		7	1177	0	0	0	1	0	7	1177				
RELN	5649	broad.mit.edu	37	7	103629780	103629780	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:103629780C>T	ENST00000428762.1	-	1	183	c.24G>A	c.(22-24)cgG>cgA	p.R8R	RELN_ENST00000424685.2_Silent_p.R8R|RELN_ENST00000343529.5_Silent_p.R8R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	8					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGAAAGTCTGCCGGGCCCAGC	0.716																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(22-24)cgG>cgA		reelin							7.0	9.0	9.0					7																	103629780		2175	4257	6432	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103629780C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.24G>A	7.37:g.103629780C>T						RELN_ENST00000343529.5_Silent_p.R8R|RELN_ENST00000424685.2_Silent_p.R8R	p.R8R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	1	183	-			8					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.24G>A	CCDS47680.1																																																																																				0.716	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		4	114	0	0	0	1	0	4	114				
KRTAP10-5	386680	broad.mit.edu	37	21	45999888	45999888	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr21:45999888G>A	ENST00000400372.1	-	1	593	c.568C>T	c.(568-570)Ccc>Tcc	p.P190S	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	190	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GAGCAGACGGGCACACAGCAG	0.622																																						ENST00000400372.1																			0				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(568-570)Ccc>Tcc		keratin associated protein 10-5							185.0	191.0	189.0					21																	45999888		2203	4300	6503	SO:0001583	missense	386680					keratin filament		g.chr21:45999888G>A	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.568C>T	21.37:g.45999888G>A	ENSP00000383223:p.Pro190Ser					TSPEAR_ENST00000323084.4_Intron	p.P190S	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN			1	593	-			190			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	c.568C>T	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	g	6.527	0.465563	0.12402	.	.	ENSG00000241123	ENST00000400372	T	0.01279	5.06	2.02	1.07	0.20283	.	.	.	.	.	T	0.04815	0.0130	L	0.53249	1.67	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.38394	-0.9663	9	0.45353	T	0.12	.	7.3404	0.26633	0.0:0.0:0.737:0.263	.	190	P60370	KR105_HUMAN	S	190	ENSP00000383223:P190S	ENSP00000383223:P190S	P	-	1	0	KRTAP10-5	44824316	0.002000	0.14202	0.001000	0.08648	0.036000	0.12997	0.039000	0.13884	0.163000	0.19507	0.305000	0.20034	CCC		0.622	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			7	1250	0	0	0	1	0	7	1250				
ZACN	353174	broad.mit.edu	37	17	74077738	74077738	+	Missense_Mutation	SNP	G	G	A	rs201259366		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:74077738G>A	ENST00000334586.5	+	7	865	c.782G>A	c.(781-783)cGc>cAc	p.R261H	EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	261	Leu-rich.				ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GCCATTGAGCGCATAGGCTAC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		18545	0.0		0.001	False		,,,				2504	0.0					ENST00000334586.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(781-783)cGc>cAc		zinc activated ligand-gated ion channel							123.0	114.0	117.0					17																	74077738		2203	4300	6503	SO:0001583	missense	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74077738G>A	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.782G>A	17.37:g.74077738G>A	ENSP00000334854:p.Arg261His					EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR	p.R261H	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN			7	865	+			261			Leu-rich.		Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	ENST00000334586.5	37	c.782G>A	CCDS11740.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.702	1.154853	0.21371	.	.	ENSG00000186919	ENST00000334586	D	0.88431	-2.38	4.64	2.61	0.31194	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.154450	0.43110	N	0.000602	D	0.83755	0.5323	M	0.78285	2.405	0.20196	N	0.999922	P	0.42518	0.782	B	0.28232	0.087	T	0.77517	-0.2558	10	0.87932	D	0	-15.7124	6.8633	0.24079	0.0924:0.0:0.7344:0.1732	.	261	Q401N2	ZACN_HUMAN	H	261	ENSP00000334854:R261H	ENSP00000334854:R261H	R	+	2	0	ZACN	71589333	0.751000	0.28327	0.017000	0.16124	0.217000	0.24651	1.805000	0.38883	0.557000	0.29117	0.505000	0.49811	CGC		0.622	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		6	719	0	0	0	1	0	6	719				
KMT2D	8085	broad.mit.edu	37	12	49427369	49427369	+	Nonsense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:49427369G>A	ENST00000301067.7	-	39	11118	c.11119C>T	c.(11119-11121)Cga>Tga	p.R3707*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3707	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCGAGGCTTCGAAGAGCAAGG	0.577																																						ENST00000301067.7																			0											c.(11119-11121)Cga>Tga		lysine (K)-specific methyltransferase 2D							48.0	55.0	52.0					12																	49427369		2090	4228	6318	SO:0001587	stop_gained	8085							g.chr12:49427369G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11119C>T	12.37:g.49427369G>A	ENSP00000301067:p.Arg3707*						p.R3707*	NM_003482.3	NP_003473.3					39	11118	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.11119C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	52	18.834729	0.99911	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.11	5.11	0.69529	.	0.000000	0.30060	N	0.010503	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.3973	0.83613	0.0:0.0:1.0:0.0	.	.	.	.	X	3707	.	ENSP00000301067:R3707X	R	-	1	2	MLL2	47713636	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.116000	0.64661	2.547000	0.85894	0.462000	0.41574	CGA		0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			7	426	0	0	0	1	0	7	426				
ZAN	7455	broad.mit.edu	37	7	100350466	100350466	+	RNA	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:100350466C>T	ENST00000348028.3	+	0	2903				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGAAAAACCCACCATCTCC	0.507																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							337.0	389.0	373.0					7																	100350466		1872	4099	5971			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350466C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350466C>T						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2886	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	14.53	2.563501	0.45694	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.71222	-0.55;-0.55;-0.55	3.73	3.73	0.42828	.	.	.	.	.	T	0.62600	0.2441	L	0.35854	1.095	0.23425	N	0.997705	B;B	0.25312	0.123;0.075	B;B	0.22152	0.038;0.017	T	0.60063	-0.7336	9	0.87932	D	0	.	13.8713	0.63622	0.0:1.0:0.0:0.0	.	913;913	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	913	ENSP00000445943:P913L;ENSP00000445091:P913L;ENSP00000444427:P913L	ENSP00000423579:P913L	P	+	2	0	ZAN	100188402	0.000000	0.05858	0.006000	0.13384	0.021000	0.10359	-0.236000	0.09003	2.028000	0.59812	0.586000	0.80456	CCC		0.507	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		7	634	0	0	0	1	0	7	634				
KRTAP5-5	439915	broad.mit.edu	37	11	1651459	1651459	+	Missense_Mutation	SNP	G	G	T	rs201822473		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:1651459G>T	ENST00000399676.2	+	1	427	c.389G>T	c.(388-390)gGc>gTc	p.G130V		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	130	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGGGCTGTGGCTCCTGTGGG	0.692																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(388-390)gGc>gTc		keratin associated protein 5-5							4.0	8.0	7.0					11																	1651459		1294	2900	4194	SO:0001583	missense	439915					keratin filament		g.chr11:1651459G>T	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.389G>T	11.37:g.1651459G>T	ENSP00000382584:p.Gly130Val						p.G130V	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	427	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	130			8 X 4 AA repeats of C-C-X-P.		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.389G>T	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	T	9.031	0.987211	0.18889	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01106	5.33	3.66	3.66	0.41972	.	.	.	.	.	T	0.04770	0.0129	M	0.77820	2.39	0.38529	D	0.948932	D	0.59357	0.985	P	0.56434	0.798	T	0.31392	-0.9945	9	0.66056	D	0.02	.	12.8924	0.58080	0.0:0.0:1.0:0.0	.	130	Q701N2	KRA55_HUMAN	V	130;101	ENSP00000382584:G130V	ENSP00000382584:G130V	G	+	2	0	KRTAP5-5	1608035	0.219000	0.23619	0.984000	0.44739	0.599000	0.36880	0.367000	0.20382	1.597000	0.50072	0.550000	0.68814	GGC		0.692	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			11	348	1	0	0.00121646	1	0.00124765	11	348				
TUBB3	10381	broad.mit.edu	37	16	90001998	90001998	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:90001998G>A	ENST00000315491.7	+	4	1262	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000554444.1_Missense_Mutation_p.R308H|TUBB3_ENST00000556922.1_Missense_Mutation_p.R727H|TUBB3_ENST00000304984.5_Missense_Mutation_p.R308H	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	380			R -> C (in CFEOM3A; affects heterodimers formation; results in increased stability and reduced dynamics of microtubules). {ECO:0000269|PubMed:20074521}.		'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	CTGTTCAAGCGCATCTCCGAG	0.627																																						ENST00000304984.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(922-924)cGc>cAc		tubulin, beta 3 class III							130.0	119.0	122.0					16																	90001998		2198	4298	6496	SO:0001583	missense	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:90001998G>A	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.1139G>A	16.37:g.90001998G>A	ENSP00000320295:p.Arg380His					TUBB3_ENST00000315491.7_Missense_Mutation_p.R380H|TUBB3_ENST00000554444.1_Missense_Mutation_p.R308H|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Missense_Mutation_p.R727H	p.R308H			Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	3218	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	380					A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	ENST00000315491.7	37	c.923G>A	CCDS10988.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661407	0.67700	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000554444;ENST00000315491	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	4.66	4.66	0.58398	Tubulin/FtsZ, 2-layer sandwich domain (2);Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.56097	D	0.000021	D	0.93331	0.7874	M	0.93375	3.41	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.95184	0.8302	9	.	.	.	.	17.5117	0.87762	0.0:0.0:1.0:0.0	.	380;380	Q13509;B2RBD5	TBB3_HUMAN;.	H	727;380;308;308;380	ENSP00000451560:R727H;ENSP00000302777:R308H;ENSP00000451617:R308H;ENSP00000320295:R380H	.	R	+	2	0	RP11-566K11.2;TUBB3	88529499	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.585000	0.98223	2.313000	0.78055	0.561000	0.74099	CGC		0.627	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		6	955	0	0	0	1	0	6	955				
NR2F1	7025	broad.mit.edu	37	5	92929289	92929289	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:92929289C>T	ENST00000327111.3	+	3	2700	c.1013C>T	c.(1012-1014)gCg>gTg	p.A338V	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	338					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CTGTCGGATGCGGCCCACATC	0.592																																						ENST00000327111.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(1012-1014)gCg>gTg		nuclear receptor subfamily 2, group F, member 1							70.0	79.0	76.0					5																	92929289		2203	4300	6503	SO:0001583	missense	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92929289C>T	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.1013C>T	5.37:g.92929289C>T	ENSP00000325819:p.Ala338Val					NR2F1_ENST00000506162.1_3'UTR	p.A338V	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	3	2700	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	338						Missense_Mutation	SNP	ENST00000327111.3	37	c.1013C>T	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	C	8.028	0.761144	0.15914	.	.	ENSG00000175745	ENST00000327111	D	0.96365	-3.99	6.17	6.17	0.99709	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.360994	0.30219	N	0.010135	D	0.90013	0.6882	N	0.02842	-0.48	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	D	0.84686	0.0720	10	0.16420	T	0.52	.	20.4898	0.99202	0.0:1.0:0.0:0.0	.	338	P10589	COT1_HUMAN	V	338	ENSP00000325819:A338V	ENSP00000325819:A338V	A	+	2	0	NR2F1	92955045	0.951000	0.32395	1.000000	0.80357	0.986000	0.74619	2.198000	0.42705	2.941000	0.99782	0.655000	0.94253	GCG		0.592	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		6	682	0	0	0	1	0	6	682				
CCDC102A	92922	broad.mit.edu	37	16	57552093	57552093	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:57552093G>A	ENST00000258214.2	-	6	1381	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	379										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						ACCTGTGCCCGCAGCTTCTTG	0.701																																						ENST00000258214.2																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						c.(1135-1137)Cgg>Tgg		coiled-coil domain containing 102A							54.0	66.0	62.0					16																	57552093		2198	4298	6496	SO:0001583	missense	92922							g.chr16:57552093G>A	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.1135C>T	16.37:g.57552093G>A	ENSP00000258214:p.Arg379Trp						p.R379W	NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN			6	1381	-			379					Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	c.1135C>T	CCDS10784.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877585	0.72294	.	.	ENSG00000135736	ENST00000258214	D	0.83419	-1.72	3.3	3.3	0.37823	.	0.058057	0.64402	D	0.000006	D	0.87513	0.6196	M	0.73217	2.22	0.52501	D	0.999954	D	0.89917	1.0	P	0.62014	0.897	D	0.88140	0.2844	10	0.87932	D	0	-31.9254	9.6806	0.40067	0.0:0.0:0.7923:0.2077	.	379	Q96A19	C102A_HUMAN	W	379	ENSP00000258214:R379W	ENSP00000258214:R379W	R	-	1	2	CCDC102A	56109594	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	0.801000	0.27055	1.873000	0.54277	0.555000	0.69702	CGG		0.701	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		7	1156	0	0	0	1	0	7	1156				
FOXD4	2298	broad.mit.edu	37	9	117757	117757	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr9:117757C>T	ENST00000382500.2	-	1	660	c.363G>A	c.(361-363)ccG>ccA	p.P121P		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	121					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGCGCTTGTGCGGGCTTTGCA	0.652																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(361-363)ccG>ccA		forkhead box D4							70.0	102.0	92.0					9																	117757		2179	4281	6460	SO:0001819	synonymous_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117757C>T	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.363G>A	9.37:g.117757C>T							p.P121P	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	660	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	121					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Silent	SNP	ENST00000382500.2	37	c.363G>A	CCDS34975.1																																																																																				0.652	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		8	1348	0	0	0	1	0	8	1348				
UGT2B28	54490	broad.mit.edu	37	4	70146857	70146857	+	Silent	SNP	C	C	T	rs542781153		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:70146857C>T	ENST00000335568.5	+	1	641	c.639C>T	c.(637-639)aaC>aaT	p.N213N	UGT2B28_ENST00000511240.1_Silent_p.N213N	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	213					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						GGGTAAAAAACATGATCTATG	0.348													-|||	1	0.000199681	0.0	0.0	5008	,	,		15689	0.0		0.001	False		,,,				2504	0.0					ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(637-639)aaC>aaT		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						68.0	72.0	71.0					4																	70146857		2027	4227	6254	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70146857C>T	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.639C>T	4.37:g.70146857C>T						UGT2B28_ENST00000511240.1_Silent_p.N213N	p.N213N	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			1	641	+			213					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.639C>T	CCDS3528.1																																																																																				0.348	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		7	297	0	0	0	1	0	7	297				
EGR3	1960	broad.mit.edu	37	8	22548167	22548167	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:22548167G>A	ENST00000317216.2	-	2	1340	c.983C>T	c.(982-984)aCg>aTg	p.T328M	EGR3_ENST00000522910.1_Missense_Mutation_p.T290M|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000519492.1_3'UTR|RP11-459E5.1_ENST00000523627.1_RNA	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	328					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CTTCTCGCCCGTATGAGTGCG	0.632																																						ENST00000317216.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(982-984)aCg>aTg		early growth response 3							71.0	70.0	70.0					8																	22548167		2203	4300	6503	SO:0001583	missense	1960				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:22548167G>A	X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.983C>T	8.37:g.22548167G>A	ENSP00000318057:p.Thr328Met					EGR3_ENST00000519492.1_3'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000522910.1_Missense_Mutation_p.T290M	p.T328M	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)	2	1340	-		Prostate(55;0.0421)|Breast(100;0.102)	328					A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Missense_Mutation	SNP	ENST00000317216.2	37	c.983C>T	CCDS6033.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098407	0.76870	.	.	ENSG00000179388	ENST00000317216;ENST00000522910;ENST00000435199	T;T	0.26373	1.74;1.74	5.62	5.62	0.85841	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.54191	0.1843	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57242	-0.7845	10	0.87932	D	0	-20.0694	17.1549	0.86788	0.0:0.0:1.0:0.0	.	290;328	E7EW38;Q06889	.;EGR3_HUMAN	M	328;290;169	ENSP00000318057:T328M;ENSP00000430310:T290M	ENSP00000318057:T328M	T	-	2	0	EGR3	22604112	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.863000	0.99569	2.643000	0.89663	0.655000	0.94253	ACG		0.632	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	NM_004430		6	653	0	0	0	1	0	6	653				
RBP3	5949	broad.mit.edu	37	10	48387849	48387849	+	Missense_Mutation	SNP	C	C	T	rs149031179		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:48387849C>T	ENST00000224600.4	-	1	3142	c.3029G>A	c.(3028-3030)cGc>cAc	p.R1010H	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1010	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.R1010H(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCCAGGAATGCGGTCCTTGGC	0.597																																						ENST00000224600.4																			1	Substitution - Missense(1)	p.R1010H(1)	prostate(1)	central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3028-3030)cGc>cAc		retinol binding protein 3, interstitial	Vitamin A(DB00162)						97.0	105.0	102.0					10																	48387849		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48387849C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.3029G>A	10.37:g.48387849C>T	ENSP00000224600:p.Arg1010His						p.R1010H	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	3142	-			1010			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.3029G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850487	0.32699	.	.	ENSG00000107618	ENST00000224600	T	0.64260	-0.09	5.28	3.4	0.38934	.	0.253639	0.45867	N	0.000323	T	0.55909	0.1950	L	0.59436	1.845	0.29650	N	0.844067	B	0.13145	0.007	B	0.08055	0.003	T	0.53753	-0.8394	10	0.42905	T	0.14	-8.7331	10.976	0.47467	0.0:0.8467:0.0:0.1533	.	1010	P10745	RET3_HUMAN	H	1010	ENSP00000224600:R1010H	ENSP00000224600:R1010H	R	-	2	0	RBP3	48007855	0.997000	0.39634	0.992000	0.48379	0.990000	0.78478	0.507000	0.22675	0.593000	0.29745	0.655000	0.94253	CGC		0.597	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		6	662	0	0	0	1	0	6	662				
NUFIP2	57532	broad.mit.edu	37	17	27620945	27620945	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:27620945G>T	ENST00000225388.4	-	1	191	c.133C>A	c.(133-135)Cac>Aac	p.H45N	NUFIP2_ENST00000579665.1_Missense_Mutation_p.H45N	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	45	His-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtggtggttgtggctg	0.587																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(133-135)Cac>Aac		nuclear fragile X mental retardation protein interacting protein 2							127.0	125.0	125.0					17																	27620945		2203	4300	6503	SO:0001583	missense	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27620945G>T	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.133C>A	17.37:g.27620945G>T	ENSP00000225388:p.His45Asn					NUFIP2_ENST00000579665.1_Missense_Mutation_p.H45N	p.H45N	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		1	191	-			45			His-rich.		A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	c.133C>A	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778902	0.49891	.	.	ENSG00000108256	ENST00000225388	.	.	.	5.41	5.41	0.78517	.	0.000000	0.46758	D	0.000266	T	0.24470	0.0593	N	0.08118	0	0.32353	N	0.558245	B;B	0.34226	0.238;0.443	B;B	0.30943	0.122;0.047	T	0.33777	-0.9855	9	0.45353	T	0.12	0.0249	14.6859	0.69049	0.0:0.0:1.0:0.0	.	45;45	Q7Z417;A1L3A6	NUFP2_HUMAN;.	N	45	.	ENSP00000225388:H45N	H	-	1	0	NUFIP2	24645071	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.321000	0.65846	2.539000	0.85634	0.467000	0.42956	CAC		0.587	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		8	708	1	0	0.000157383	1	0.000163515	8	708				
TRHDE	29953	broad.mit.edu	37	12	72667194	72667194	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:72667194G>A	ENST00000261180.4	+	1	732	c.636G>A	c.(634-636)ccG>ccA	p.P212P	TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	212					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TCCTCTACCCGCAAACCCAGG	0.567																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(634-636)ccG>ccA		thyrotropin-releasing hormone degrading enzyme							60.0	59.0	60.0					12																	72667194		2203	4300	6503	SO:0001819	synonymous_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72667194G>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.636G>A	12.37:g.72667194G>A						TRHDE-AS1_ENST00000426250.3_RNA	p.P212P	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			1	732	+			212					A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	c.636G>A	CCDS9004.1																																																																																				0.567	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		6	457	0	0	0	1	0	6	457				
KCNH5	27133	broad.mit.edu	37	14	63511901	63511901	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr14:63511901G>A	ENST00000322893.7	-	1	272	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	KCNH5_ENST00000394968.1_Intron|KCNH5_ENST00000394964.2_Intron|KCNH5_ENST00000420622.2_Missense_Mutation_p.P2S	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	2					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTGCCCCCCGGCATCCTGGGT	0.602																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(4-6)Ccg>Tcg		potassium voltage-gated channel, subfamily H (eag-related), member 5							53.0	47.0	49.0					14																	63511901		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63511901G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.4C>T	14.37:g.63511901G>A	ENSP00000321427:p.Pro2Ser					KCNH5_ENST00000394968.1_Intron|KCNH5_ENST00000394964.2_Intron|KCNH5_ENST00000420622.2_Missense_Mutation_p.P2S	p.P2S	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	1	272	-			2					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.4C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743568	0.69418	.	.	ENSG00000140015	ENST00000322893;ENST00000420622	D;D	0.98876	-5.2;-5.06	5.23	5.23	0.72850	.	0.052087	0.85682	D	0.000000	D	0.98248	0.9420	M	0.72118	2.19	0.80722	D	1	P;P	0.37548	0.538;0.599	P;B	0.44359	0.447;0.103	D	0.99806	1.1038	10	0.87932	D	0	.	16.6453	0.85175	0.0:0.0:1.0:0.0	.	2;2	Q8NCM2-2;Q8NCM2	.;KCNH5_HUMAN	S	2	ENSP00000321427:P2S;ENSP00000395439:P2S	ENSP00000321427:P2S	P	-	1	0	KCNH5	62581654	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.118000	0.89577	2.611000	0.88343	0.563000	0.77884	CCG		0.602	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		5	260	0	0	0	1	0	5	260				
UGT2B28	54490	broad.mit.edu	37	4	70146870	70146870	+	Missense_Mutation	SNP	C	C	A	rs575693723	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:70146870C>A	ENST00000335568.5	+	1	654	c.652C>A	c.(652-654)Ctt>Att	p.L218I	UGT2B28_ENST00000511240.1_Missense_Mutation_p.L218I	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	218					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						GATCTATGTGCTTTATTTTGA	0.348													-|||	3	0.000599042	0.0	0.0043	5008	,	,		15985	0.0		0.0	False		,,,				2504	0.0					ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(652-654)Ctt>Att		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						63.0	69.0	67.0					4																	70146870		2032	4227	6259	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70146870C>A	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.652C>A	4.37:g.70146870C>A	ENSP00000334276:p.Leu218Ile					UGT2B28_ENST00000511240.1_Missense_Mutation_p.L218I	p.L218I	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			1	654	+			218					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.652C>A	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	5.407	0.260353	0.10239	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.72505	-0.66;-0.66	2.18	0.143	0.14820	.	0.335796	0.24254	U	0.040145	T	0.62332	0.2419	L	0.56769	1.78	0.09310	N	1	B;B	0.24368	0.102;0.031	B;B	0.32724	0.113;0.151	T	0.52946	-0.8507	10	0.36615	T	0.2	.	5.4611	0.16617	0.0:0.5448:0.0:0.4552	.	218;218	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	I	218	ENSP00000334276:L218I;ENSP00000427399:L218I	ENSP00000334276:L218I	L	+	1	0	UGT2B28	70181459	0.000000	0.05858	0.029000	0.17559	0.094000	0.18550	-1.487000	0.02310	-0.148000	0.11234	0.184000	0.17185	CTT		0.348	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		5	303	1	0	1.23904e-05	1	1.31579e-05	5	303				
CAMTA1	23261	broad.mit.edu	37	1	7724800	7724800	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:7724800C>T	ENST00000303635.7	+	9	2400	c.2193C>T	c.(2191-2193)ggC>ggT	p.G731G	CAMTA1_ENST00000439411.2_Silent_p.G731G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	731					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GAAGCGCCGGCGGCGTCCCCA	0.672			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(2191-2193)ggC>ggT		calmodulin binding transcription activator 1							45.0	56.0	52.0					1																	7724800		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724800C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2193C>T	1.37:g.7724800C>T						CAMTA1_ENST00000439411.2_Silent_p.G731G	p.G731G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2400	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	731					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.2193C>T	CCDS30576.1																																																																																				0.672	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		16	437	0	0	0	1	0	16	437				
ZNF347	84671	broad.mit.edu	37	19	53644064	53644064	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:53644064T>C	ENST00000334197.7	-	5	2085	c.2017A>G	c.(2017-2019)Aga>Gga	p.R673G	ZNF347_ENST00000452676.2_Missense_Mutation_p.R674G|ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	673					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GTATGAACTCTCCGATGTCTT	0.428																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(2020-2022)Aga>Gga		zinc finger protein 347							161.0	146.0	151.0					19																	53644064		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644064T>C	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2017A>G	19.37:g.53644064T>C	ENSP00000334146:p.Arg673Gly					ZNF347_ENST00000334197.7_Missense_Mutation_p.R673G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G	p.R674G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2446	-			673					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.2020A>G	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	T	9.306	1.054384	0.19907	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.02421	4.3;4.3	2.94	1.91	0.25777	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05456	0.0144	M	0.83692	2.655	0.09310	N	0.999998	B;P	0.38504	0.169;0.634	B;B	0.36418	0.034;0.224	T	0.23476	-1.0187	9	0.72032	D	0.01	.	5.9153	0.19052	0.0:0.2437:0.0:0.7563	.	674;673	G5E9N4;Q96SE7	.;ZN347_HUMAN	G	673;674	ENSP00000334146:R673G;ENSP00000405218:R674G	ENSP00000334146:R673G	R	-	1	2	ZNF347	58335876	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.856000	0.01662	0.362000	0.24319	-0.256000	0.11100	AGA		0.428	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		6	552	0	0	0	1	0	6	552				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	76	0	0	0	1	0	4	76				
BAGE2	85319	broad.mit.edu	37	21	11097591	11097591	+	RNA	SNP	G	G	A	rs555671325		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr21:11097591G>A	ENST00000470054.1	-	0	278							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caccacaggggactcctcctt	0.542																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							65.0	84.0	77.0					21																	11097591		1442	2602	4044			85319							g.chr21:11097591G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11097591G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	278	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.542	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		22	506	0	0	0	1	0	22	506				
MIR494	574452	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr14:101493161A>T	ENST00000349529.2	+	0	0				MIR299_ENST00000385016.2_RNA|MIR329-2_ENST00000385029.1_RNA|MIR1197_ENST00000408818.1_RNA|MIR380_ENST00000362112.2_RNA|MIR758_ENST00000390227.1_RNA|MIR323A_ENST00000362199.1_RNA|MIR329-1_ENST00000385028.1_RNA	NR_030174.1				microRNA 494																		TGTTTCTTTAATGAGGACGAA	0.468																																						ENST00000385028.1																			0																				250.0	208.0	221.0					14																	101493161		1568	3582	5150			0							g.chr14:101493161A>T			14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101493161A>T								NR_029967.1						0	40	+									RNA	SNP	ENST00000349529.2	37																																																																																						0.468	MIR494-201	KNOWN	basic	miRNA	miRNA		NR_030174		6	585	0	0	0	1	0	6	585				
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		1	Substitution - coding silent(1)	p.S188S(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(562-564)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							77.0	84.0	82.0					9																	20414280		2203	4300	6503	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414280G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.564C>T	9.37:g.20414280G>A						MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S188S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	850	-			188			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.564C>T	CCDS6494.1																																																																																				0.502	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	506	0	0	0	1	0	6	506				
ATP1A2	477	broad.mit.edu	37	1	160098456	160098456	+	Silent	SNP	G	G	C			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:160098456G>C	ENST00000361216.3	+	9	1121	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	ATP1A2_ENST00000392233.3_Silent_p.L344L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	344					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTGACCCTGACAGCCAAGC	0.572																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(1030-1032)ctG>ctC		ATPase, Na+/K+ transporting, alpha 2 polypeptide							83.0	77.0	79.0					1																	160098456		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098456G>C	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1032G>C	1.37:g.160098456G>C						ATP1A2_ENST00000392233.3_Silent_p.L344L|ATP1A2_ENST00000472488.1_3'UTR	p.L344L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1121	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		344					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.1032G>C	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	8.661	0.900587	0.17686	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.77	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0569	0.53540	0.0858:0.0:0.9142:0.0	.	.	.	.	S	55	.	.	X	+	2	2	ATP1A2	158365080	0.990000	0.36364	1.000000	0.80357	0.929000	0.56500	0.128000	0.15810	1.141000	0.42275	0.561000	0.74099	TGA		0.572	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		8	325	0	0	0	1	0	8	325				
NLRP6	171389	broad.mit.edu	37	11	281566	281566	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:281566A>G	ENST00000312165.5	+	4	1832	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000534750.1_Missense_Mutation_p.E611G	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1831-1833)gAg>gGg		NLR family, pyrin domain containing 6							76.0	89.0	84.0					11																	281566		2203	4299	6502	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281566A>G	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1832A>G	11.37:g.281566A>G	ENSP00000309767:p.Glu611Gly					NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G	p.E611G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2037	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1832A>G	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454845	0.26161	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75367	-0.93;-0.9	3.22	3.22	0.36961	.	0.671525	0.12247	N	0.485944	T	0.80204	0.4580	L	0.57536	1.79	0.32256	N	0.570815	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.979	T	0.76013	-0.3114	10	0.21540	T	0.41	.	8.1671	0.31233	1.0:0.0:0.0:0.0	.	611;611	E9PJZ8;P59044	.;NALP6_HUMAN	G	611	ENSP00000433617:E611G;ENSP00000309767:E611G	ENSP00000309767:E611G	E	+	2	0	NLRP6	271566	0.811000	0.29063	0.618000	0.29105	0.573000	0.36030	0.753000	0.26376	1.704000	0.51252	0.379000	0.24179	GAG		0.662	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		6	795	0	0	0	1	0	6	795				
ZP2	7783	broad.mit.edu	37	16	21209136	21209136	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:21209136G>T	ENST00000574002.1	-	19	2528	c.2046C>A	c.(2044-2046)agC>agA	p.S682R	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.S673R|ZP2_ENST00000219593.4_Missense_Mutation_p.S682R			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	682					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TCTCCCCACTGCTCCCACTTG	0.468																																						ENST00000574002.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(2044-2046)agC>agA		zona pellucida glycoprotein 2 (sperm receptor)							196.0	160.0	172.0					16																	21209136		2200	4300	6500	SO:0001583	missense	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21209136G>T	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.2046C>A	16.37:g.21209136G>T	ENSP00000460971:p.Ser682Arg					ZP2_ENST00000574091.1_Missense_Mutation_p.S673R|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.S682R	p.S682R			Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	19	2528	-			682					B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	c.2046C>A	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	G	9.670	1.146585	0.21288	.	.	ENSG00000103310	ENST00000219593	T	0.76060	-0.99	4.26	-5.44	0.02624	.	17.585600	0.00496	N	0.000144	T	0.50888	0.1642	N	0.08118	0	0.09310	N	1	B;B	0.29432	0.244;0.148	B;B	0.26969	0.075;0.035	T	0.42716	-0.9435	10	0.30854	T	0.27	25.2756	6.89	0.24224	0.7005:0.0:0.1658:0.1337	.	673;682	Q4VAP1;Q05996	.;ZP2_HUMAN	R	682	ENSP00000219593:S682R	ENSP00000219593:S682R	S	-	3	2	ZP2	21116637	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.272000	0.08560	-1.035000	0.03291	0.563000	0.77884	AGC		0.468	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			35	561	1	0	2.20914e-33	1	2.4546e-33	35	561				
TTC17	55761	broad.mit.edu	37	11	43429013	43429013	+	Silent	SNP	A	A	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:43429013A>T	ENST00000039989.4	+	15	1964	c.1950A>T	c.(1948-1950)ccA>ccT	p.P650P	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Silent_p.P650P	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	650					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ATTTAGCTCCACTTCAATACC	0.438																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(1948-1950)ccA>ccT		tetratricopeptide repeat domain 17							127.0	107.0	114.0					11																	43429013		2203	4300	6503	SO:0001819	synonymous_variant	55761						binding	g.chr11:43429013A>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1950A>T	11.37:g.43429013A>T						TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Silent_p.P650P	p.P650P	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			15	1964	+			650					G3XAB3|Q8NEC0	Silent	SNP	ENST00000039989.4	37	c.1950A>T	CCDS31466.1																																																																																				0.438	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		15	226	0	0	0	1	0	15	226				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G	rs372261324		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATCTTCTGCAATTCGGAGTCC	0.652																																						ENST00000432432.2																			0																																																			0							g.chr2:95522815A>G			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522815A>G								NR_040113.1						0	212	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.652	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			6	436	0	0	0	1	0	6	436				
HS6ST1	9394	broad.mit.edu	37	2	129026419	129026419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:129026419G>A	ENST00000259241.6	-	2	566	c.553C>T	c.(553-555)Cga>Tga	p.R185*		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	185	3'-phosphate binding. {ECO:0000255}.				angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)	p.R185*(2)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		ACGGGGTCTCGTAGCAGGGTG	0.627																																						ENST00000259241.6																			2	Substitution - Nonsense(2)	p.R185*(2)	prostate(1)|pancreas(1)	endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(553-555)Cga>Tga		heparan sulfate 6-O-sulfotransferase 1																																				SO:0001587	stop_gained	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026419G>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.553C>T	2.37:g.129026419G>A	ENSP00000259241:p.Arg185*						p.R185*	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	566	-	Colorectal(110;0.1)		185			3'-phosphate binding (Potential).		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Nonsense_Mutation	SNP	ENST00000259241.6	37	c.553C>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065652	0.76187	.	.	ENSG00000136720	ENST00000259241	.	.	.	4.85	2.8	0.32819	.	0.051973	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.284	0.49212	0.0:0.0:0.3759:0.6241	.	.	.	.	X	185	.	.	R	-	1	2	HS6ST1	128742889	1.000000	0.71417	0.985000	0.45067	0.971000	0.66376	1.846000	0.39289	1.015000	0.39444	0.462000	0.41574	CGA		0.627	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		12	275	0	0	0	1	0	12	275				
LOC728323	728323	broad.mit.edu	37	2	243037116	243037116	+	RNA	SNP	T	T	A	rs540310927	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:243037116T>A	ENST00000456398.1	+	0	248																											GCTGGAAGAATTGTGAATCTT	0.398													.|||	6	0.00119808	0.0023	0.0029	5008	,	,		17557	0.0		0.001	False		,,,				2504	0.0					ENST00000456398.1																			0																																																			0							g.chr2:243037116T>A																													2.37:g.243037116T>A														0	248	+									RNA	SNP	ENST00000456398.1	37																																																																																						0.398	AC093642.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000322444.2			7	390	0	0	0	1	0	7	390				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		16	308	0	0	0	1	0	16	308				
B3GNT5	84002	broad.mit.edu	37	3	182988349	182988349	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:182988349G>A	ENST00000326505.3	+	2	1293	c.763G>A	c.(763-765)Gga>Aga	p.G255R	MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.G255R|B3GNT5_ENST00000465010.1_Missense_Mutation_p.G255R	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	255					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTACACAGCCGGAGCTGCCTA	0.473																																						ENST00000326505.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(763-765)Gga>Aga		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5							62.0	56.0	58.0					3																	182988349		2203	4300	6503	SO:0001583	missense	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182988349G>A	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.763G>A	3.37:g.182988349G>A	ENSP00000316173:p.Gly255Arg					MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.G255R|B3GNT5_ENST00000460419.1_Missense_Mutation_p.G255R|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron	p.G255R	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	1293	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		255					D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	ENST00000326505.3	37	c.763G>A	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767063	0.49574	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	T;T;T	0.68181	-0.31;-0.31;-0.31	5.91	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.86871	0.6037	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90542	0.4503	10	0.62326	D	0.03	.	15.1217	0.72450	0.0677:0.0:0.9323:0.0	.	255	Q9BYG0	B3GN5_HUMAN	R	255	ENSP00000316173:G255R;ENSP00000420778:G255R;ENSP00000417868:G255R	ENSP00000316173:G255R	G	+	1	0	B3GNT5	184471043	1.000000	0.71417	0.075000	0.20258	0.107000	0.19398	9.869000	0.99810	1.514000	0.48869	-0.145000	0.13849	GGA		0.473	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1	NM_032047		4	261	0	0	0	1	0	4	261				
ZNF83	55769	broad.mit.edu	37	19	53116804	53116804	+	Silent	SNP	G	G	A	rs192432041	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:53116804G>A	ENST00000597597.1	-	2	3267	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000545872.1_Silent_p.I338I			P51522	ZNF83_HUMAN	zinc finger protein 83	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I338I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCCAGTGTGGATTCTCCAGT	0.413													A|||	3	0.000599042	0.0	0.0014	5008	,	,		22957	0.001		0.001	False		,,,				2504	0.0					ENST00000597597.1																			1	Substitution - coding silent(1)	p.I338I(1)	lung(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1012-1014)atC>atT		zinc finger protein 83							120.0	122.0	121.0					19																	53116804		2203	4300	6503	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116804G>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1014C>T	19.37:g.53116804G>A						ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000600714.1_Intron	p.I338I			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3267	-			338					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.1014C>T	CCDS12854.1																																																																																				0.413	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		7	598	0	0	0	1	0	7	598				
MAGEC1	9947	broad.mit.edu	37	X	140995016	140995016	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:140995016T>A	ENST00000285879.4	+	4	2112	c.1826T>A	c.(1825-1827)cTc>cAc	p.L609H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	609										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTCTCCTCTCTACTTTCCT	0.572										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1825-1827)cTc>cAc		melanoma antigen family C, 1							193.0	205.0	201.0					X																	140995016		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995016T>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1826T>A	X.37:g.140995016T>A	ENSP00000285879:p.Leu609His	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L609H	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2112	+	Acute lymphoblastic leukemia(192;6.56e-05)		609					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1826T>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	t	0.021	-1.420247	0.01136	.	.	ENSG00000155495	ENST00000285879	T	0.02280	4.36	0.96	-1.92	0.07618	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	0.18873	N	0.999981	B	0.13594	0.008	B	0.12156	0.007	T	0.44651	-0.9314	9	0.41790	T	0.15	.	3.46	0.07529	0.6118:0.1904:0.0:0.1978	.	609	O60732	MAGC1_HUMAN	H	609	ENSP00000285879:L609H	ENSP00000285879:L609H	L	+	2	0	MAGEC1	140822682	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.882000	0.00714	-3.326000	0.00186	-3.493000	0.00034	CTC		0.572	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		14	1719	0	0	0	1	0	14	1719				
TAP1	6890	broad.mit.edu	37	6	32820252	32820252	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:32820252C>T	ENST00000354258.4	-	2	967	c.806G>A	c.(805-807)gGc>gAc	p.G269D	TAP1_ENST00000425148.2_Missense_Mutation_p.G8D|PSMB9_ENST00000453265.2_5'Flank|PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000374859.2_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	269	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	AGTGAGGCGGCCCGTAAAGAA	0.507																																						ENST00000354258.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						c.(805-807)gGc>gAc		transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)							97.0	93.0	95.0					6																	32820252		1510	2707	4217	SO:0001583	missense	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32820252C>T		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.806G>A	6.37:g.32820252C>T	ENSP00000346206:p.Gly269Asp					TAP1_ENST00000425148.2_Missense_Mutation_p.G8D|PSMB9_ENST00000395330.1_Intron	p.G269D	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN			2	967	-			269			ABC transmembrane type-1.		Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.806G>A	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195941	0.78902	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.91407	-2.84;-2.84	4.78	4.78	0.61160	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.870577	0.09721	N	0.764435	D	0.95592	0.8567	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94207	0.7455	10	0.87932	D	0	-17.1129	15.3702	0.74557	0.0:1.0:0.0:0.0	.	269	Q03518	TAP1_HUMAN	D	269;8	ENSP00000346206:G269D;ENSP00000401919:G8D	ENSP00000346206:G269D	G	-	2	0	TAP1	32928230	1.000000	0.71417	0.830000	0.32933	0.412000	0.31113	6.583000	0.74053	2.470000	0.83445	0.551000	0.68910	GGC		0.507	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		6	327	0	0	0	1	0	6	327				
FAM127B	26071	broad.mit.edu	37	X	134186027	134186027	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:134186027C>T	ENST00000370775.2	-	1	178	c.112G>A	c.(112-114)Gac>Aac	p.D38N	FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	38										breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					GGGAGTCGGTCGGTATCTCCG	0.637																																						ENST00000370775.2																			0				breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(112-114)Gac>Aac		family with sequence similarity 127, member B							90.0	95.0	94.0					X																	134186027		2114	4210	6324	SO:0001583	missense	26071							g.chrX:134186027C>T	AL117556	CCDS43998.1	Xq26.3	2014-05-16			ENSG00000203950	ENSG00000203950			24514	protein-coding gene	gene with protein product						9403077, 15716091	Standard	NM_001078172		Approved	DKFZP564B147, MAR8A, CXX1b	uc004eyf.3	Q9BWD3	OTTHUMG00000022466	ENST00000370775.2:c.112G>A	X.37:g.134186027C>T	ENSP00000375267:p.Asp38Asn					FAM127B_ENST00000520964.1_5'UTR	p.D38N	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN			1	178	-	Acute lymphoblastic leukemia(192;0.000127)		38					A2A2V9|Q8TBU2	Missense_Mutation	SNP	ENST00000370775.2	37	c.112G>A	CCDS43998.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171400	0.38315	.	.	ENSG00000203950	ENST00000370775	T	0.31247	1.5	2.38	2.38	0.29361	.	0.509400	0.14388	U	0.322689	T	0.41305	0.1153	L	0.50333	1.59	0.27449	N	0.953491	D;D	0.76494	0.999;0.993	D;P	0.74023	0.982;0.619	T	0.18461	-1.0336	10	0.17369	T	0.5	.	7.511	0.27573	0.0:1.0:0.0:0.0	.	36;38	Q6IPB9;Q9BWD3	.;F127B_HUMAN	N	38	ENSP00000375267:D38N	ENSP00000375267:D38N	D	-	1	0	FAM127B	134013693	1.000000	0.71417	0.995000	0.50966	0.112000	0.19704	2.055000	0.41345	1.470000	0.48102	0.292000	0.19580	GAC		0.637	FAM127B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058393.2	NM_001078172		15	724	0	0	0	1	0	15	724				
SLC35G3	146861	broad.mit.edu	37	17	33520358	33520358	+	Silent	SNP	A	A	G	rs74740601		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:33520358A>G	ENST00000297307.5	-	1	1054	c.969T>C	c.(967-969)atT>atC	p.I323I	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	323	EamA 2.					integral component of membrane (GO:0016021)		p.I323I(1)									TCTGGGCTGTAATGATGGCAA	0.547																																						ENST00000297307.5																			1	Substitution - coding silent(1)	p.I323I(1)	lung(1)								c.(967-969)atT>atC		solute carrier family 35, member G3																																				SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520358A>G	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.969T>C	17.37:g.33520358A>G							p.I323I	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1054	-			323			DUF6 2.		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.969T>C	CCDS11293.1																																																																																				0.547	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		7	435	0	0	0	1	0	7	435				
LPAR3	23566	broad.mit.edu	37	1	85331338	85331338	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:85331338C>T	ENST00000440886.1	-	1	504	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	LPAR3_ENST00000491034.1_Intron|LPAR3_ENST00000370611.3_Missense_Mutation_p.A156T			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	156					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.A156T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						ATAAAAATGGCGATGGCCCAG	0.542																																						ENST00000440886.1																			1	Substitution - Missense(1)	p.A156T(1)	kidney(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(466-468)Gcc>Acc		lysophosphatidic acid receptor 3							141.0	147.0	145.0					1																	85331338		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331338C>T	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.466G>A	1.37:g.85331338C>T	ENSP00000395389:p.Ala156Thr					LPAR3_ENST00000491034.1_Intron|LPAR3_ENST00000370611.3_Missense_Mutation_p.A156T	p.A156T			Q9UBY5	LPAR3_HUMAN			1	504	-			156					A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.466G>A	CCDS700.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512109	0.64522	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.41758	0.99;0.99	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.050820	0.85682	D	0.000000	T	0.57344	0.2047	M	0.86740	2.835	0.49798	D	0.999824	D	0.63046	0.992	P	0.53490	0.727	T	0.67703	-0.5602	10	0.87932	D	0	.	19.0389	0.92991	0.0:1.0:0.0:0.0	.	156	Q9UBY5	LPAR3_HUMAN	T	156	ENSP00000395389:A156T;ENSP00000359643:A156T	ENSP00000359643:A156T	A	-	1	0	LPAR3	85103926	1.000000	0.71417	0.995000	0.50966	0.363000	0.29612	6.295000	0.72744	2.501000	0.84356	0.655000	0.94253	GCC		0.542	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		8	844	0	0	0	1	0	8	844				
HEXIM1	10614	broad.mit.edu	37	17	43227508	43227508	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:43227508C>T	ENST00000332499.2	+	1	2825	c.951C>T	c.(949-951)ggC>ggT	p.G317G	AC002117.1_ENST00000589950.1_RNA|AC002117.1_ENST00000452741.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	317	Required for inhibition of ESR1-dependent transcription.				heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGCTGGGTGGCGACGACGCGC	0.662																																						ENST00000332499.2																			0				breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(949-951)ggC>ggT		hexamethylene bis-acetamide inducible 1							42.0	52.0	49.0					17																	43227508		2203	4299	6502	SO:0001819	synonymous_variant	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43227508C>T	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.951C>T	17.37:g.43227508C>T							p.G317G	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN			1	2825	+			317			Required for inhibition of ESR1-dependent transcription.		B2R8Y5	Silent	SNP	ENST00000332499.2	37	c.951C>T	CCDS11495.1																																																																																				0.662	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	NM_006460		6	617	0	0	0	1	0	6	617				
PRAMEF11	440560	broad.mit.edu	37	1	12887686	12887686	+	Silent	SNP	T	T	C	rs59802947	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:12887686T>C	ENST00000535591.1	-	3	366	c.171A>G	c.(169-171)agA>agG	p.R57R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	57					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R57R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGTTTCCATCTCCTGTGGG	0.468													.|||	5	0.000998403	0.0008	0.0	5008	,	,		21622	0.001		0.0	False		,,,				2504	0.0031					ENST00000535591.1																			1	Substitution - coding silent(1)	p.R57R(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(169-171)agA>agG		PRAME family member 11																																				SO:0001819	synonymous_variant	440560							g.chr1:12887686T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.171A>G	1.37:g.12887686T>C							p.R57R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	366	-			57						Silent	SNP	ENST00000535591.1	37	c.171A>G	CCDS53268.1																																																																																				0.468	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		33	813	0	0	0	1	0	33	813				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:72663998T>G	ENST00000425256.1	-	0	902									GTF2I repeat domain containing 2 pseudogene 1																		ATAGCCGGGGTCCTTGAATAC	0.488																																						ENST00000425256.1																			0																																																			0							g.chr7:72663998T>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72663998T>G								NR_002164.1						0	902	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		6	235	0	0	0	1	0	6	235				
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G	rs370664533	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr20:62839353A>G	ENST00000328439.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Silent_p.E268E	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			2	Substitution - coding silent(2)	p.E268E(2)	prostate(1)|kidney(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(802-804)gaA>gaG		myelin transcription factor 1							19.0	19.0	19.0					20																	62839353		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839353A>G	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.804A>G	20.37:g.62839353A>G						MYT1_ENST00000328439.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron	p.E268E			Q01538	MYT1_HUMAN			7	1168	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		268			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.804A>G	CCDS13558.1																																																																																				0.572	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		5	81	0	0	0	1	0	5	81				
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs200907281	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458													.|||	1958	0.390974	0.1899	0.3501	5008	,	,		13255	0.6895		0.4553	False		,,,				2504	0.318					ENST00000535591.1																			3	Substitution - coding silent(3)	p.L274L(3)	kidney(2)|endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(820-822)ctC>ctA		PRAME family member 11							67.0	40.0	49.0					1																	12885289		582	1168	1750	SO:0001819	synonymous_variant	440560							g.chr1:12885289G>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.822C>A	1.37:g.12885289G>T							p.L274L	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1017	-			274						Silent	SNP	ENST00000535591.1	37	c.822C>A	CCDS53268.1																																																																																				0.458	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		7	756	1	0	0.00136819	1	0.0013973	7	756				
BCRP7	100133163	broad.mit.edu	37	22	18846121	18846121	+	3'UTR	SNP	C	C	T	rs4302302	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr22:18846121C>T	ENST00000412938.1	+	0	3479																											CACGCACTGGCGCACGATGTA	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846121C>T																												ENST00000412938.1:c.*3476C>T	22.37:g.18846121C>T														0	3479	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			17	156	0	0	0	1	0	17	156				
ACVR2A	92	broad.mit.edu	37	2	148657447	148657447	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:148657447C>G	ENST00000241416.7	+	4	1144	c.508C>G	c.(508-510)Cct>Gct	p.P170A	ACVR2A_ENST00000404590.1_Missense_Mutation_p.P170A|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000535787.1_Missense_Mutation_p.P62A	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	170					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GGCCTACCCTCCTGTACTTGT	0.383																																						ENST00000241416.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(508-510)Cct>Gct		activin A receptor, type IIA							193.0	175.0	181.0					2																	148657447		2203	4300	6503	SO:0001583	missense	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148657447C>G		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.508C>G	2.37:g.148657447C>G	ENSP00000241416:p.Pro170Ala					ACVR2A_ENST00000404590.1_Missense_Mutation_p.P170A|ACVR2A_ENST00000535787.1_Missense_Mutation_p.P62A|AC009480.3_ENST00000402410.2_RNA	p.P170A	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	4	1144	+			170					B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	c.508C>G	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	C	9.819	1.185208	0.21870	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.83506	-1.73;-1.64;-1.73	5.22	5.22	0.72569	Protein kinase-like domain (1);	0.047266	0.85682	D	0.000000	T	0.73877	0.3643	L	0.31294	0.92	0.58432	D	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.67960	-0.5535	10	0.11182	T	0.66	.	17.333	0.87271	0.0:1.0:0.0:0.0	.	170	P27037	AVR2A_HUMAN	A	170;62;170	ENSP00000241416:P170A;ENSP00000439988:P62A;ENSP00000384338:P170A	ENSP00000241416:P170A	P	+	1	0	ACVR2A	148373917	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.550000	0.60733	2.608000	0.88229	0.585000	0.79938	CCT		0.383	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		19	512	0	0	0	1	0	19	512				
ITGA4	3676	broad.mit.edu	37	2	182358062	182358062	+	Silent	SNP	C	C	T	rs202012822		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:182358062C>T	ENST00000397033.2	+	11	1594	c.1164C>T	c.(1162-1164)atC>atT	p.I388I		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	388					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	ATGTTGCTATCGGAGCTCCAC	0.353													C|||	1	0.000199681	0.0	0.0	5008	,	,		17881	0.0		0.0	False		,,,				2504	0.001					ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1162-1164)atC>atT		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						97.0	90.0	92.0					2																	182358062		1849	4095	5944	SO:0001819	synonymous_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182358062C>T		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1164C>T	2.37:g.182358062C>T							p.I388I	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		11	1594	+			388					D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.1164C>T	CCDS42788.1																																																																																				0.353	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			8	356	0	0	0	1	0	8	356				
TLK2	11011	broad.mit.edu	37	17	60689888	60689888	+	Missense_Mutation	SNP	T	T	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:60689888T>G	ENST00000326270.9	+	23	2549	c.2281T>G	c.(2281-2283)Tca>Gca	p.S761A	TLK2_ENST00000343388.7_Missense_Mutation_p.S707A|TLK2_ENST00000542523.1_Missense_Mutation_p.S707A|TLK2_ENST00000346027.5_Missense_Mutation_p.S739A|TLK2_ENST00000582809.1_Missense_Mutation_p.S590A	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	761					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TGCTATTGCATCAACCTCTGG	0.507																																						ENST00000582809.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.(1768-1770)Tca>Gca		tousled-like kinase 2							75.0	63.0	67.0					17																	60689888		2203	4300	6503	SO:0001583	missense	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60689888T>G	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.2281T>G	17.37:g.60689888T>G	ENSP00000316512:p.Ser761Ala					TLK2_ENST00000346027.5_Missense_Mutation_p.S739A|TLK2_ENST00000326270.9_Missense_Mutation_p.S761A|TLK2_ENST00000542523.1_Missense_Mutation_p.S707A|TLK2_ENST00000343388.7_Missense_Mutation_p.S707A	p.S590A			Q86UE8	TLK2_HUMAN			23	2471	+			761			Protein kinase.		D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37	c.1768T>G		.	.	.	.	.	.	.	.	.	.	T	5.315	0.243429	0.10077	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.65549	-0.13;-0.16;-0.14;-0.16	5.83	5.83	0.93111	Protein kinase-like domain (1);	0.055808	0.85682	D	0.000000	T	0.54886	0.1886	N	0.08118	0	0.80722	D	1	P;P;P;P	0.47910	0.841;0.902;0.902;0.841	P;P;P;P	0.60236	0.746;0.871;0.871;0.746	T	0.53535	-0.8425	10	0.02654	T	1	.	15.3837	0.74681	0.0:0.0:0.0:1.0	.	761;707;739;739	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	A	739;707;761;707	ENSP00000275780:S739A;ENSP00000340800:S707A;ENSP00000316512:S761A;ENSP00000442311:S707A	ENSP00000316512:S761A	S	+	1	0	TLK2	58043620	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.231000	0.72958	0.459000	0.35465	TCA		0.507	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		13	269	0	0	0	1	0	13	269				
MTO1	25821	broad.mit.edu	37	6	74171682	74171682	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:74171682G>A	ENST00000370300.4	+	1	195	c.105G>A	c.(103-105)ccG>ccA	p.P35P	MTO1_ENST00000370305.1_Intron|MTO1_ENST00000415954.2_Silent_p.P35P|MTO1_ENST00000498286.1_Silent_p.P35P|RNU6-975P_ENST00000384296.1_RNA	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	35					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						CCCGGACTCCGCACTTCGACG	0.647																																						ENST00000498286.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						c.(103-105)ccG>ccA		mitochondrial tRNA translation optimization 1							78.0	79.0	79.0					6																	74171682		2203	4300	6503	SO:0001819	synonymous_variant	25821				tRNA processing	mitochondrion	flavin adenine dinucleotide binding	g.chr6:74171682G>A	AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.105G>A	6.37:g.74171682G>A						MTO1_ENST00000415954.2_Silent_p.P35P|MTO1_ENST00000370300.4_Silent_p.P35P|MTO1_ENST00000370305.1_Intron	p.P35P			Q9Y2Z2	MTO1_HUMAN			1	382	+			35					B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Silent	SNP	ENST00000370300.4	37	c.105G>A	CCDS4979.1																																																																																				0.647	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123		6	702	0	0	0	1	0	6	702				
STAB1	23166	broad.mit.edu	37	3	52548769	52548769	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:52548769G>A	ENST00000321725.6	+	35	3807	c.3731G>A	c.(3730-3732)cGc>cAc	p.R1244H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1244	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCCCTGGCCGCTCGCTGATT	0.662																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(3730-3732)cGc>cAc		stabilin 1							60.0	65.0	63.0					3																	52548769		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52548769G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3731G>A	3.37:g.52548769G>A	ENSP00000312946:p.Arg1244His						p.R1244H	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	35	3807	+			1244			FAS1 4.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.3731G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551298	0.45383	.	.	ENSG00000010327	ENST00000321725	D	0.84944	-1.92	5.72	3.94	0.45596	FAS1 domain (3);	0.314687	0.33631	N	0.004717	T	0.69043	0.3067	N	0.22421	0.69	0.09310	N	1	P	0.45634	0.863	B	0.31016	0.123	T	0.62358	-0.6871	10	0.48119	T	0.1	-9.0658	8.7596	0.34667	0.162:0.0:0.838:0.0	.	1244	Q9NY15	STAB1_HUMAN	H	1244	ENSP00000312946:R1244H	ENSP00000312946:R1244H	R	+	2	0	STAB1	52523809	0.560000	0.26570	0.393000	0.26258	0.829000	0.46940	1.856000	0.39389	0.780000	0.33566	0.561000	0.74099	CGC		0.662	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		6	489	0	0	0	1	0	6	489				
BAIAP2	10458	broad.mit.edu	37	17	79078379	79078379	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:79078379C>T	ENST00000321300.6	+	10	1225	c.1132C>T	c.(1132-1134)Cgg>Tgg	p.R378W	BAIAP2_ENST00000435091.3_Missense_Mutation_p.R378W|BAIAP2_ENST00000321280.7_Missense_Mutation_p.R378W|BAIAP2_ENST00000575245.1_Missense_Mutation_p.R411W|BAIAP2_ENST00000428708.2_Missense_Mutation_p.R378W|BAIAP2_ENST00000575712.1_Missense_Mutation_p.R378W|BAIAP2_ENST00000416299.2_Missense_Mutation_p.R241W|BAIAP2_ENST00000392411.3_Missense_Mutation_p.R300W	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	378	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGGCCGTATGCGGGTGAAGGC	0.642																																						ENST00000321300.6																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.(1132-1134)Cgg>Tgg		BAI1-associated protein 2							50.0	48.0	49.0					17																	79078379		2202	4299	6501	SO:0001583	missense	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79078379C>T	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.1132C>T	17.37:g.79078379C>T	ENSP00000316338:p.Arg378Trp					BAIAP2_ENST00000416299.2_Missense_Mutation_p.R241W|BAIAP2_ENST00000575245.1_Missense_Mutation_p.R411W|BAIAP2_ENST00000435091.3_Missense_Mutation_p.R378W|BAIAP2_ENST00000392411.3_Missense_Mutation_p.R300W|BAIAP2_ENST00000575712.1_Missense_Mutation_p.R378W|BAIAP2_ENST00000321280.7_Missense_Mutation_p.R378W|BAIAP2_ENST00000428708.2_Missense_Mutation_p.R378W	p.R378W	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		10	1225	+	all_neural(118;0.101)		378			SH3.		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	c.1132C>T	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889006	0.72524	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	T;T;T;T;T;T	0.37411	1.64;1.66;1.21;1.21;1.65;1.2	4.79	2.58	0.30949	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.91920	3.255	0.58432	D	0.999998	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.999;1.0;0.999;0.999;0.999	T	0.75651	-0.3244	10	0.87932	D	0	-18.6775	13.6331	0.62206	0.3669:0.6331:0.0:0.0	.	241;300;379;378;378;378;378;379;378	B4DWA1;F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;.;BAIP2_HUMAN;.;.;.;.;.	W	378;378;378;378;300;241	ENSP00000316338:R378W;ENSP00000401022:R378W;ENSP00000413069:R378W;ENSP00000315685:R378W;ENSP00000376211:R300W;ENSP00000391837:R241W	ENSP00000315685:R378W	R	+	1	2	BAIAP2	76692974	0.985000	0.35326	1.000000	0.80357	0.889000	0.51656	0.882000	0.28186	1.110000	0.41699	0.484000	0.47621	CGG		0.642	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			5	377	0	0	0	1	0	5	377				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			5	391	0	0	0	1	0	5	391				
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844763T>C																												ENST00000412938.1:c.*3010T>C	22.37:g.18844763T>C														0	3013	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	50	0	0	0	1	0	3	50				
MACF1	23499	broad.mit.edu	37	1	39818849	39818849	+	Nonsense_Mutation	SNP	C	C	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:39818849C>A	ENST00000372915.3	+	43	11472	c.11385C>A	c.(11383-11385)taC>taA	p.Y3795*	MACF1_ENST00000567887.1_Nonsense_Mutation_p.Y3827*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Y1728*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.Y1728*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Y2230*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Y1728*|MACF1_ENST00000564288.1_Nonsense_Mutation_p.Y3790*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Y1728*|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3795					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGATGGTTACATGGGGGTGA	0.502																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(11368-11370)taC>taA		microtubule-actin crosslinking factor 1							115.0	108.0	110.0					1																	39818849		2203	4300	6503	SO:0001587	stop_gained	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39818849C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.11385C>A	1.37:g.39818849C>A	ENSP00000362006:p.Tyr3795*					MACF1_ENST00000372915.3_Nonsense_Mutation_p.Y3795*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Y1728*|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Y1728*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Y2230*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Y1728*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.Y1728*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Y3827*	p.Y3790*			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		44	12147	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3795					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	ENST00000372915.3	37	c.11370C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.139508|6.139508	0.97320|0.97320	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893	.|.	.|.	.|.	5.35|5.35	0.971|0.971	0.19698|0.19698	.|.	.|0.687238	.|0.13641	.|N	.|0.372941	T|.	0.08670|.	0.0215|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34976|.	-0.9807|.	4|.	.|0.02654	.|T	.|1	.|.	1.9822|1.9822	0.03429|0.03429	0.1365:0.489:0.1333:0.2412|0.1365:0.489:0.1333:0.2412	.|.	.|.	.|.	.|.	N|X	862|1728;3795;1728;1728;1728;1877;2230	.|.	.|ENSP00000289893:Y2230X	H|Y	+|+	1|3	0|2	MACF1|MACF1	39591436|39591436	0.000000|0.000000	0.05858|0.05858	0.084000|0.084000	0.20598|0.20598	0.980000|0.980000	0.70556|0.70556	-0.256000|-0.256000	0.08757|0.08757	0.597000|0.597000	0.29811|0.29811	0.555000|0.555000	0.69702|0.69702	CAT|TAC		0.502	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		5	259	1	0	0.184627	1	0.1854	5	259				
CGREF1	10669	broad.mit.edu	37	2	27324303	27324303	+	Missense_Mutation	SNP	C	C	T	rs113949888		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:27324303C>T	ENST00000260595.5	-	7	1037	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000402394.1_Missense_Mutation_p.E266K|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	249				E -> K (in Ref. 1; AAC50896). {ECO:0000305}.	cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATCTCCTTCAGCCTCTGCC	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		8068	0.001		0.0	False		,,,				2504	0.0					ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(796-798)Gaa>Aaa		cell growth regulator with EF-hand domain 1							56.0	67.0	63.0					2																	27324303		1757	3436	5193	SO:0001583	missense	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324303C>T	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"""EF-hand domain containing"""	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.745G>A	2.37:g.27324303C>T	ENSP00000260595:p.Glu249Lys					CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000260595.5_Missense_Mutation_p.E249K|CGREF1_ENST00000402550.1_Intron	p.E266K	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN			6	1064	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		258					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.796G>A		.	.	.	.	.	.	.	.	.	.	c	12.37	1.918380	0.33908	.	.	ENSG00000138028	ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	T;T;T;T;T	0.80909	-1.34;-1.34;-1.34;-1.33;-1.43	4.28	3.36	0.38483	.	0.000000	0.30575	U	0.009325	T	0.77301	0.4110	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.68191	-0.5474	7	0.35671	T	0.21	-16.1548	11.3197	0.49415	0.1819:0.818:0.0:0.0	.	.	.	.	K	266;266;249;266;388;249	ENSP00000385452:E266K;ENSP00000386113:E266K;ENSP00000324025:E266K;ENSP00000385574:E388K;ENSP00000260595:E249K	ENSP00000260595:E249K	E	-	1	0	CGREF1	27177807	0.205000	0.23458	0.055000	0.19348	0.439000	0.31926	2.745000	0.47459	1.969000	0.57287	0.549000	0.68633	GAA		0.687	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		7	830	0	0	0	1	0	7	830				
MUC17	140453	broad.mit.edu	37	7	100683951	100683951	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:100683951C>T	ENST00000306151.4	+	3	9318	c.9254C>T	c.(9253-9255)tCa>tTa	p.S3085L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3085	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S3085*(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGTCAGTTCATCTCCTACA	0.522																																						ENST00000306151.4																			1	Substitution - Nonsense(1)	p.S3085*(1)	lung(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9253-9255)tCa>tTa		mucin 17, cell surface associated							261.0	259.0	260.0					7																	100683951		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683951C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9254C>T	7.37:g.100683951C>T	ENSP00000302716:p.Ser3085Leu						p.S3085L	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9318	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3085			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9254C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	8.482	0.859960	0.17178	.	.	ENSG00000169876	ENST00000306151	T	0.02301	4.35	1.18	1.18	0.20946	.	.	.	.	.	T	0.02848	0.0085	L	0.29908	0.895	0.09310	N	1	P	0.48350	0.909	P	0.48704	0.587	T	0.51973	-0.8637	9	0.25106	T	0.35	.	8.4028	0.32597	0.0:1.0:0.0:0.0	.	3085	Q685J3	MUC17_HUMAN	L	3085	ENSP00000302716:S3085L	ENSP00000302716:S3085L	S	+	2	0	MUC17	100470671	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.146000	0.16180	0.986000	0.38683	0.121000	0.15741	TCA		0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		70	1295	0	0	0	1	0	70	1295				
QDPR	5860	broad.mit.edu	37	4	17493886	17493886	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:17493886G>A	ENST00000281243.5	-	5	693	c.514C>T	c.(514-516)Ccg>Tcg	p.P172S	QDPR_ENST00000428702.2_Missense_Mutation_p.P141S|QDPR_ENST00000513615.1_Intron|QDPR_ENST00000508623.1_Intron	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	172					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						GCCCCGGGCGGCATGCCGCTG	0.642																																						ENST00000281243.5																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(514-516)Ccg>Tcg		quinoid dihydropteridine reductase	NADH(DB00157)						36.0	40.0	39.0					4																	17493886		2203	4300	6503	SO:0001583	missense	5860				dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity	g.chr4:17493886G>A	AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	9752	protein-coding gene	gene with protein product	"""6,7-dihydropteridine reductase"", ""short chain dehydrogenase/reductase family 33C, member 1"""	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.514C>T	4.37:g.17493886G>A	ENSP00000281243:p.Pro172Ser					QDPR_ENST00000508623.1_Intron|QDPR_ENST00000428702.2_Missense_Mutation_p.P141S|QDPR_ENST00000513615.1_Intron	p.P172S	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN			5	693	-			172					A8K158|B3KW71|Q53F52|Q9H3M5	Missense_Mutation	SNP	ENST00000281243.5	37	c.514C>T	CCDS3421.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156614	0.78114	.	.	ENSG00000151552	ENST00000281243;ENST00000428702	D;D	0.94457	-3.43;-3.43	5.26	5.26	0.73747	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97707	0.9248	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.975	D	0.98210	1.0472	10	0.56958	D	0.05	-8.7527	17.6482	0.88154	0.0:0.0:1.0:0.0	.	141;172	B3KW71;P09417	.;DHPR_HUMAN	S	172;141	ENSP00000281243:P172S;ENSP00000390944:P141S	ENSP00000281243:P172S	P	-	1	0	QDPR	17102984	1.000000	0.71417	0.997000	0.53966	0.399000	0.30720	8.814000	0.91968	2.448000	0.82819	0.557000	0.71058	CCG		0.642	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250372.1	NM_000320		5	339	0	0	0	1	0	5	339				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		10	240	0	0	0	1	0	10	240				
LCT	3938	broad.mit.edu	37	2	136575286	136575286	+	Silent	SNP	G	G	A	rs370939537		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:136575286G>A	ENST00000264162.2	-	6	1342	c.1332C>T	c.(1330-1332)tgC>tgT	p.C444C	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	444	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CCCGGAGGCCGCAAAGCAGGG	0.647																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(1330-1332)tgC>tgT		lactase		G		0,4406		0,0,2203	69.0	65.0	66.0		1332	-11.5	0.0	2		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LCT	NM_002299.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		444/1928	136575286	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136575286G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1332C>T	2.37:g.136575286G>A							p.C444C	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	6	1342	-			444			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.1332C>T	CCDS2178.1																																																																																				0.647	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		5	492	0	0	0	1	0	5	492				
THRA	7067	broad.mit.edu	37	17	38245543	38245543	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:38245543G>A	ENST00000264637.4	+	9	1647	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	THRA_ENST00000450525.2_Missense_Mutation_p.R356H|THRA_ENST00000546243.1_Missense_Mutation_p.R356H|THRA_ENST00000394121.4_Missense_Mutation_p.R356H|THRA_ENST00000584985.1_Missense_Mutation_p.R356H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	356	Ligand-binding.				cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GTCAACCACCGCAAACACAAC	0.597																																						ENST00000450525.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(1066-1068)cGc>cAc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						257.0	196.0	217.0					17																	38245543		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38245543G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.1067G>A	17.37:g.38245543G>A	ENSP00000264637:p.Arg356His					THRA_ENST00000394121.4_Missense_Mutation_p.R356H|THRA_ENST00000264637.4_Missense_Mutation_p.R356H|THRA_ENST00000546243.1_Missense_Mutation_p.R356H|THRA_ENST00000584985.1_Missense_Mutation_p.R356H	p.R356H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			9	1558	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	356			Ligand-binding.		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.1067G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	g	25.5	4.648442	0.87958	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14	4.5	4.5	0.54988	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.96855	0.8973	L	0.56396	1.775	0.80722	D	1	D;D;D	0.65815	0.991;0.971;0.995	P;P;P	0.58620	0.806;0.842;0.659	D	0.96930	0.9680	10	0.52906	T	0.07	.	16.1444	0.81555	0.0:0.0:1.0:0.0	.	356;356;356	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	356	ENSP00000377679:R356H;ENSP00000264637:R356H;ENSP00000395641:R356H;ENSP00000443972:R356H	ENSP00000264637:R356H	R	+	2	0	THRA	35499069	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.520000	0.81821	2.319000	0.78375	0.424000	0.28305	CGC		0.597	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			6	967	0	0	0	1	0	6	967				
EIF3A	8661	broad.mit.edu	37	10	120802027	120802027	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:120802027G>A	ENST00000369144.3	-	19	3132	c.3005C>T	c.(3004-3006)gCc>gTc	p.A1002V	EIF3A_ENST00000541549.1_Missense_Mutation_p.A968V	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GTCTTCATCGGCAATTCGTCT	0.567																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(3004-3006)gCc>gTc		eukaryotic translation initiation factor 3, subunit A							241.0	191.0	208.0					10																	120802027		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120802027G>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3005C>T	10.37:g.120802027G>A	ENSP00000358140:p.Ala1002Val					EIF3A_ENST00000541549.1_Missense_Mutation_p.A968V|EIF3A_ENST00000478852.1_Intron	p.A1002V	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3132	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1002			25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.3005C>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	0.640	-0.813600	0.02798	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.23950	1.88;1.88	6.17	1.77	0.24775	.	0.466770	0.15686	N	0.249646	T	0.22781	0.0550	L	0.55990	1.75	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.10450	0.005;0.0	T	0.19484	-1.0304	10	0.30854	T	0.27	-8.0023	9.4858	0.38928	0.3191:0.4754:0.2056:0.0	.	968;1002	F5H335;Q14152	.;EIF3A_HUMAN	V	1002;968	ENSP00000358140:A1002V;ENSP00000438178:A968V	ENSP00000358140:A1002V	A	-	2	0	EIF3A	120792017	0.000000	0.05858	0.061000	0.19648	0.196000	0.23810	-0.233000	0.09041	0.433000	0.26313	-0.165000	0.13383	GCC		0.567	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		6	839	0	0	0	1	0	6	839				
CRNN	49860	broad.mit.edu	37	1	152382520	152382520	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:152382520G>A	ENST00000271835.3	-	3	1100	c.1038C>T	c.(1036-1038)caC>caT	p.H346H	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	346	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTATCTGAGTGTGTCCTCCTG	0.597																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1036-1038)caC>caT		cornulin							234.0	198.0	210.0					1																	152382520		2203	4300	6503	SO:0001819	synonymous_variant	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382520G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1038C>T	1.37:g.152382520G>A						RP1-91G5.3_ENST00000411804.1_RNA	p.H346H	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1100	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		346			Gln-rich.		B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	37	c.1038C>T	CCDS1010.1																																																																																				0.597	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		7	1021	0	0	0	1	0	7	1021				
DNM1L	10059	broad.mit.edu	37	12	32884346	32884346	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:32884346G>A	ENST00000549701.1	+	11	1331	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	DNM1L_ENST00000358214.5_Silent_p.R432R|DNM1L_ENST00000266481.6_Silent_p.R419R|DNM1L_ENST00000381000.4_Silent_p.R432R|DNM1L_ENST00000547312.1_Silent_p.R419R|DNM1L_ENST00000414834.2_Silent_p.R216R|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000553257.1_Silent_p.R432R|DNM1L_ENST00000452533.2_Silent_p.R419R			O00429	DNM1L_HUMAN	dynamin 1-like	419	Middle domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGTGAAGCGGCAAATCAAAC	0.418																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(1255-1257)cgG>cgA		dynamin 1-like							111.0	115.0	113.0					12																	32884346		2203	4300	6503	SO:0001819	synonymous_variant	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32884346G>A	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1257G>A	12.37:g.32884346G>A						DNM1L_ENST00000414834.2_Silent_p.R216R|DNM1L_ENST00000547312.1_Silent_p.R419R|DNM1L_ENST00000381000.4_Silent_p.R432R|DNM1L_ENST00000266481.6_Silent_p.R419R|DNM1L_ENST00000358214.5_Silent_p.R432R|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000549701.1_Silent_p.R419R|DNM1L_ENST00000553257.1_Silent_p.R432R	p.R419R	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			11	1421	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		419			Middle domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Silent	SNP	ENST00000549701.1	37	c.1257G>A	CCDS8729.1																																																																																				0.418	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		5	472	0	0	0	1	0	5	472				
DCLRE1C	64421	broad.mit.edu	37	10	14976718	14976718	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:14976718T>C	ENST00000378278.2	-	7	558	c.521A>G	c.(520-522)tAc>tGc	p.Y174C	DCLRE1C_ENST00000396817.2_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.Y59C|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.Y59C|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.Y174C|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.Y59C			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	174					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TGGAATTTGGTAAAATCTTGG	0.398								Non-homologous end-joining																														ENST00000453695.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						c.(160-162)tAc>tGc	Non-homologous end-joining	DNA cross-link repair 1C							145.0	139.0	141.0					10																	14976718		2203	4300	6503	SO:0001583	missense	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14976718T>C	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.521A>G	10.37:g.14976718T>C	ENSP00000367527:p.Tyr174Cys					DCLRE1C_ENST00000378254.1_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.Y174C|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.Y59C|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.Y59C|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.Y174C|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.Y59C	p.Y54C	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN			7	605	-			174					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	c.161A>G	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.328605	0.60743	.	.	ENSG00000152457	ENST00000378289;ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000418843;ENST00000378241	T;T;T;T;T;T;T;T;T;T;T;T	0.80393	-1.23;-0.76;-0.77;-0.77;-0.77;-0.76;-0.76;-0.76;-1.34;-0.76;-1.37;-0.76	4.85	3.7	0.42460	Beta-lactamase-like (1);	0.055752	0.85682	D	0.000000	D	0.85600	0.5734	M	0.64997	1.995	0.48830	D	0.999716	P;D;P	0.69078	0.893;0.997;0.937	P;D;P	0.63033	0.753;0.91;0.762	D	0.85634	0.1272	10	0.72032	D	0.01	.	11.1815	0.48631	0.1379:0.0:0.0:0.8621	.	174;59;174	Q96SD1-4;Q96SD1-3;Q96SD1	.;.;DCR1C_HUMAN	C	174;54;59;59;59;54;54;54;174;54;28;54	ENSP00000367538:Y174C;ENSP00000400529:Y54C;ENSP00000367492:Y59C;ENSP00000350349:Y59C;ENSP00000367496:Y59C;ENSP00000380030:Y54C;ENSP00000367503:Y54C;ENSP00000367502:Y54C;ENSP00000367527:Y174C;ENSP00000367506:Y54C;ENSP00000391428:Y28C;ENSP00000367487:Y54C	ENSP00000350349:Y59C	Y	-	2	0	DCLRE1C	15016724	1.000000	0.71417	0.989000	0.46669	0.750000	0.42670	4.892000	0.63193	0.785000	0.33685	-0.309000	0.09137	TAC		0.398	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		39	674	0	0	0	1	0	39	674				
RP1L1	94137	broad.mit.edu	37	8	10465032	10465032	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:10465032C>T	ENST00000382483.3	-	4	6799	c.6576G>A	c.(6574-6576)gaG>gaA	p.E2192E		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2272	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TACCTTCTGACTCTGGCTGGG	0.612																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(6574-6576)gaG>gaA		retinitis pigmentosa 1-like 1							163.0	178.0	174.0					8																	10465032		1880	4106	5986	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10465032C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6576G>A	8.37:g.10465032C>T							p.E2192E	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6799	-			2192					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.6576G>A	CCDS43708.1																																																																																				0.612	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			8	1571	0	0	0	1	0	8	1571				
TAF1L	138474	broad.mit.edu	37	9	32632378	32632378	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr9:32632378G>A	ENST00000242310.4	-	1	3289	c.3200C>T	c.(3199-3201)gCc>gTc	p.A1067V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1067					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.A1067V(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGATCCACGGGCAAATTTACT	0.468																																						ENST00000242310.4																			1	Substitution - Missense(1)	p.A1067V(1)	prostate(1)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(3199-3201)gCc>gTc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							178.0	178.0	178.0					9																	32632378		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632378G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3200C>T	9.37:g.32632378G>A	ENSP00000418379:p.Ala1067Val						p.A1067V	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3289	-			1067					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3200C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750747	0.89753	.	.	ENSG00000122728	ENST00000242310	T	0.18810	2.19	0.479	0.479	0.16796	.	0.097880	0.64402	D	0.000001	T	0.41858	0.1177	M	0.82823	2.61	0.58432	D	0.999997	D	0.76494	0.999	D	0.76071	0.987	T	0.32241	-0.9914	10	0.72032	D	0.01	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1067	Q8IZX4	TAF1L_HUMAN	V	1067	ENSP00000418379:A1067V	ENSP00000418379:A1067V	A	-	2	0	TAF1L	32622378	1.000000	0.71417	0.997000	0.53966	0.891000	0.51852	5.867000	0.69597	0.507000	0.28148	0.195000	0.17529	GCC		0.468	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			8	734	0	0	0	1	0	8	734				
CEBPZ	10153	broad.mit.edu	37	2	37456107	37456107	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:37456107C>T	ENST00000234170.5	-	2	374	c.229G>A	c.(229-231)Gat>Aat	p.D77N	NDUFAF7_ENST00000002125.4_5'Flank|NDUFAF7_ENST00000336237.6_5'Flank	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	77					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TGAAGGTCATCGATTGCTCCT	0.358																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(229-231)Gat>Aat		CCAAT/enhancer binding protein (C/EBP), zeta							78.0	70.0	73.0					2																	37456107		2202	4300	6502	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37456107C>T	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.229G>A	2.37:g.37456107C>T	ENSP00000234170:p.Asp77Asn						p.D77N	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			2	374	-		all_hematologic(82;0.21)	77					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.229G>A	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588983	0.66105	.	.	ENSG00000115816	ENST00000234170;ENST00000545744;ENST00000446769	T;T	0.02369	4.32;4.32	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.11024	0.0269	L	0.36672	1.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.01988	-1.1234	10	0.87932	D	0	.	19.7248	0.96160	0.0:1.0:0.0:0.0	.	77	Q03701	CEBPZ_HUMAN	N	77;77;28	ENSP00000234170:D77N;ENSP00000391881:D28N	ENSP00000234170:D77N	D	-	1	0	CEBPZ	37309611	1.000000	0.71417	0.987000	0.45799	0.218000	0.24690	7.273000	0.78527	2.642000	0.89623	0.655000	0.94253	GAT		0.358	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		8	166	0	0	0	1	0	8	166				
LTB4R	1241	broad.mit.edu	37	14	24785056	24785056	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr14:24785056G>A	ENST00000396789.4	+	2	1924	c.199G>A	c.(199-201)Gta>Ata	p.V67I	LTB4R_ENST00000396782.2_Missense_Mutation_p.V67I|LTB4R_ENST00000345363.3_Missense_Mutation_p.V67I	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	67					cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle contraction (GO:0006936)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CGACCTGGCCGTATTGCTCAC	0.577																																						ENST00000396789.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8						c.(199-201)Gta>Ata		leukotriene B4 receptor							205.0	182.0	190.0					14																	24785056		2203	4300	6503	SO:0001583	missense	1241				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding	g.chr14:24785056G>A	X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903		"""GPCR / Class A : Leukotriene receptors"""	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1		8921391, 8702478	Standard	NM_181657		Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.199G>A	14.37:g.24785056G>A	ENSP00000380008:p.Val67Ile					LTB4R_ENST00000345363.3_Missense_Mutation_p.V67I|LTB4R_ENST00000396782.2_Missense_Mutation_p.V67I	p.V67I	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	1924	+			67					Q13305|Q53XV5|Q92641|Q9BSU5	Missense_Mutation	SNP	ENST00000396789.4	37	c.199G>A	CCDS9626.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670154	0.67814	.	.	ENSG00000213903	ENST00000553481;ENST00000345363;ENST00000396789;ENST00000396782	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	5.89	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.078141	0.49916	U	0.000133	T	0.66406	0.2786	L	0.61036	1.89	0.20074	N	0.999932	P	0.38504	0.634	B	0.32864	0.154	T	0.57266	-0.7841	10	0.35671	T	0.21	.	9.8439	0.41015	0.0766:0.1405:0.783:0.0	.	67	Q15722	LT4R1_HUMAN	I	67	ENSP00000450457:V67I;ENSP00000307445:V67I;ENSP00000380008:V67I;ENSP00000380002:V67I	ENSP00000307445:V67I	V	+	1	0	LTB4R	23854896	0.949000	0.32298	0.017000	0.16124	0.931000	0.56810	3.183000	0.50918	0.819000	0.34492	0.655000	0.94253	GTA		0.577	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073198.4			7	869	0	0	0	1	0	7	869				
ZNF536	9745	broad.mit.edu	37	19	31038886	31038886	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:31038886C>T	ENST00000355537.3	+	4	2507	c.2360C>T	c.(2359-2361)gCc>gTc	p.A787V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	787					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.A787D(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGTGACTATGCCGGCACGCAG	0.512																																						ENST00000355537.3																			1	Substitution - Missense(1)	p.A787D(1)	lung(1)	NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2359-2361)gCc>gTc		zinc finger protein 536							65.0	68.0	67.0					19																	31038886		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31038886C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2360C>T	19.37:g.31038886C>T	ENSP00000347730:p.Ala787Val						p.A787V	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	2507	+	Esophageal squamous(110;0.0834)		787					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2360C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372690	0.82573	.	.	ENSG00000198597	ENST00000355537	T	0.13778	2.56	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	N	0.25332	0.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.01218	-1.1415	10	0.72032	D	0.01	-31.1218	20.6721	0.99693	0.0:1.0:0.0:0.0	.	787;787	A7E228;O15090	.;ZN536_HUMAN	V	787	ENSP00000347730:A787V	ENSP00000347730:A787V	A	+	2	0	ZNF536	35730726	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	7.481000	0.81124	2.894000	0.99253	0.591000	0.81541	GCC		0.512	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		6	542	0	0	0	1	0	6	542				
RYR1	6261	broad.mit.edu	37	19	38948830	38948830	+	Missense_Mutation	SNP	G	G	A	rs144845360		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:38948830G>A	ENST00000359596.3	+	18	2065	c.2065G>A	c.(2065-2067)Gag>Aag	p.E689K	RYR1_ENST00000355481.4_Missense_Mutation_p.E689K|RYR1_ENST00000360985.3_Missense_Mutation_p.E689K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	689	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGCCCTCACCGAGGGCTACAC	0.627																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(2065-2067)Gag>Aag		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)	G	LYS/GLU,LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	54.0	51.0	52.0		2065,2065	5.0	1.0	19	dbSNP_134	52	0,8600		0,0,4300	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	56,56	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	689/5039,689/5034	38948830	2,13004	2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38948830G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2065G>A	19.37:g.38948830G>A	ENSP00000352608:p.Glu689Lys					RYR1_ENST00000360985.3_Missense_Mutation_p.E689K|RYR1_ENST00000359596.3_Missense_Mutation_p.E689K	p.E689K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		18	2196	+	all_cancers(60;7.91e-06)		689			B30.2/SPRY 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.2065G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593369	0.66219	4.54E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.73258	-0.73;-0.73;-0.73	5.02	5.02	0.67125	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	U	0.000002	T	0.76499	0.3996	L	0.46947	1.48	0.38142	D	0.938482	D;P	0.89917	1.0;0.796	D;P	0.66497	0.944;0.459	T	0.73531	-0.3953	10	0.21540	T	0.41	.	14.2501	0.66013	0.0:0.0:0.8505:0.1495	.	689;689	P21817-2;P21817	.;RYR1_HUMAN	K	689	ENSP00000352608:E689K;ENSP00000347667:E689K;ENSP00000354254:E689K	ENSP00000347667:E689K	E	+	1	0	RYR1	43640670	1.000000	0.71417	0.967000	0.41034	0.989000	0.77384	4.716000	0.61916	2.623000	0.88846	0.549000	0.68633	GAG		0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			15	503	0	0	0	1	0	15	503				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		5	266	0	0	0	1	0	5	266				
ACRC	93953	broad.mit.edu	37	X	70823900	70823900	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:70823900G>A	ENST00000373695.1	+	7	1310	c.773G>A	c.(772-774)aGc>aAc	p.S258N	ACRC_ENST00000373696.3_Missense_Mutation_p.S258N			Q96QF7	ACRC_HUMAN	acidic repeat containing	258	Asp/Ser-rich.					nucleus (GO:0005634)		p.S258N(2)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCCGACGACAGCAGTGATGAT	0.557																																						ENST00000373695.1																			2	Substitution - Missense(2)	p.S258N(2)	endometrium(2)	autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(772-774)aGc>aAc		acidic repeat containing							19.0	18.0	19.0					X																	70823900		1511	3123	4634	SO:0001583	missense	93953					nucleus		g.chrX:70823900G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.773G>A	X.37:g.70823900G>A	ENSP00000362799:p.Ser258Asn					ACRC_ENST00000373696.3_Missense_Mutation_p.S258N	p.S258N			Q96QF7	ACRC_HUMAN			7	1310	+	Renal(35;0.156)		258			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.773G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	g	0.024	-1.390008	0.01185	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.32023	1.47;1.47	0.14	-0.28	0.12886	.	.	.	.	.	T	0.10766	0.0263	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33007	-0.9885	9	0.14656	T	0.56	.	4.7735	0.13167	0.3324:0.0:0.6676:0.0	.	258	Q96QF7	ACRC_HUMAN	N	258	ENSP00000362800:S258N;ENSP00000362799:S258N	ENSP00000362799:S258N	S	+	2	0	ACRC	70740625	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.205000	0.09411	-1.206000	0.02641	-1.198000	0.01671	AGC		0.557	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			8	711	0	0	0	1	0	8	711				
KRTAP9-4	85280	broad.mit.edu	37	17	39406130	39406130	+	Missense_Mutation	SNP	G	G	A	rs201060748		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:39406130G>A	ENST00000334109.2	+	1	192	c.158G>A	c.(157-159)cGc>cAc	p.R53H		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	53	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament (GO:0045095)		p.R53H(4)		breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTTGCTGCCGCCCAACTTGC	0.642													.|||	1	0.000199681	0.0	0.0	5008	,	,		19351	0.0		0.001	False		,,,				2504	0.0					ENST00000334109.2																			4	Substitution - Missense(4)	p.R53H(4)	lung(3)|upper_aerodigestive_tract(1)	breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(157-159)cGc>cAc		keratin associated protein 9-4							60.0	49.0	53.0					17																	39406130		2203	4299	6502	SO:0001583	missense	85280					keratin filament		g.chr17:39406130G>A	AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"""Keratin associated proteins"""	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.158G>A	17.37:g.39406130G>A	ENSP00000334922:p.Arg53His						p.R53H	NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	192	+		Breast(137;0.000496)	53			15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].		Q0VAE3	Missense_Mutation	SNP	ENST00000334109.2	37	c.158G>A	CCDS11386.1	.	.	.	.	.	.	.	.	.	.	.	2.344	-0.350422	0.05173	.	.	ENSG00000241595	ENST00000334109	T	0.01099	5.34	2.57	-5.14	0.02875	.	.	.	.	.	T	0.01254	0.0041	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39099	-0.9630	9	0.40728	T	0.16	.	2.8899	0.05673	0.2815:0.2222:0.4039:0.0924	.	53	Q9BYQ2	KRA94_HUMAN	H	53	ENSP00000334922:R53H	ENSP00000334922:R53H	R	+	2	0	KRTAP9-4	36659656	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-2.235000	0.01202	-3.785000	0.00107	-2.699000	0.00136	CGC		0.642	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257306.1			8	343	0	0	0	1	0	8	343				
TUBB8P7	197331	broad.mit.edu	37	16	90162340	90162340	+	RNA	SNP	C	C	T	rs138169571	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:90162340C>T	ENST00000564451.1	+	0	1693				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R358W(1)									CATCCCACTCCGGGGGCTAAA	0.478													.|||	307	0.0613019	0.0461	0.0735	5008	,	,		21594	0.0268		0.0795	False		,,,				2504	0.09					ENST00000567960.1																			1	Substitution - Missense(1)	p.R358W(1)	stomach(1)																																																0							g.chr16:90162340C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162340C>T						TUBB8P7_ENST00000564451.1_RNA								0	1076	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.478	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		10	633	0	0	0	1	0	10	633				
ZNF761	388561	broad.mit.edu	37	19	53958826	53958826	+	RNA	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:53958826G>A	ENST00000454407.1	+	0	1518							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AACCTTACAAGTGTAATGAGT	0.418																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							152.0	151.0	151.0					19																	53958826		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958826G>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958826G>A										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	1518	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.418	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		6	648	0	0	0	1	0	6	648				
CAPNS2	84290	broad.mit.edu	37	16	55601209	55601209	+	Missense_Mutation	SNP	G	G	A	rs540136871		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:55601209G>A	ENST00000457326.2	+	1	626	c.541G>A	c.(541-543)Gca>Aca	p.A181T	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	181	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						TCTGCAGGCCGCAGGCTTCCA	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		19779	0.0		0.001	False		,,,				2504	0.0					ENST00000457326.2																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(541-543)Gca>Aca		calpain, small subunit 2							97.0	98.0	98.0					16																	55601209		1879	4112	5991	SO:0001583	missense	84290					cytoplasm|plasma membrane	calcium ion binding	g.chr16:55601209G>A	AY052551	CCDS54010.1	16q12.2	2013-01-10						"""EF-hand domain containing"""	16371	protein-coding gene	gene with protein product						11853546	Standard	NM_032330		Approved	MGC12536, MGC14804	uc002eid.1	Q96L46		ENST00000457326.2:c.541G>A	16.37:g.55601209G>A	ENSP00000400882:p.Ala181Thr					LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	p.A181T	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN			1	626	+			181			EF-hand 2.		Q9BPV4	Missense_Mutation	SNP	ENST00000457326.2	37	c.541G>A	CCDS54010.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472549	0.96274	.	.	ENSG00000256812	ENST00000457326	T	0.47869	0.83	5.98	5.98	0.97165	EF-hand-like domain (1);	.	.	.	.	T	0.77103	0.4081	M	0.91038	3.17	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.80799	-0.1221	9	0.72032	D	0.01	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	181	Q96L46	CPNS2_HUMAN	T	181	ENSP00000400882:A181T	ENSP00000400882:A181T	A	+	1	0	CAPNS2	54158710	1.000000	0.71417	0.986000	0.45419	0.931000	0.56810	8.752000	0.91632	2.835000	0.97688	0.650000	0.86243	GCA		0.463	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396391.1	NM_032330		6	546	0	0	0	1	0	6	546				
SPEF2	79925	broad.mit.edu	37	5	35793392	35793392	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:35793392G>A	ENST00000356031.3	+	32	4840	c.4686G>A	c.(4684-4686)aaG>aaA	p.K1562K	SPEF2_ENST00000303129.4_Silent_p.K359K|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Silent_p.K1557K	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1562					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAAGTTCAAGGCTGTGGATA	0.507																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(4669-4671)aaG>aaA		sperm flagellar 2							100.0	99.0	99.0					5																	35793392		1981	4176	6157	SO:0001819	synonymous_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35793392G>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4686G>A	5.37:g.35793392G>A						SPEF2_ENST00000303129.4_Silent_p.K359K|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.K1562K	p.K1557K			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		32	4671	+	all_lung(31;7.56e-05)		1562					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	c.4671G>A	CCDS43309.1																																																																																				0.507	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		8	316	0	0	0	1	0	8	316				
SPATA31A6	389730	broad.mit.edu	37	9	43625214	43625214	+	Missense_Mutation	SNP	T	T	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr9:43625214T>G	ENST00000332857.6	-	4	3501	c.3473A>C	c.(3472-3474)cAc>cCc	p.H1158P	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1158					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTCTCCAAAGTGGCTTACTGA	0.433																																						ENST00000332857.6																			0											c.(3472-3474)cAc>cCc		SPATA31 subfamily A, member 6							203.0	201.0	201.0					9																	43625214		644	1569	2213	SO:0001583	missense	389730							g.chr9:43625214T>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3473A>C	9.37:g.43625214T>G	ENSP00000329825:p.His1158Pro						p.H1158P	NM_001145196.1	NP_001138668.1					4	3501	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.3473A>C	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	0.325	-0.959430	0.02267	.	.	ENSG00000185775	ENST00000332857	T	0.03524	3.9	2.44	-4.88	0.03113	.	2.897470	0.01221	N	0.008105	T	0.02970	0.0088	L	0.33245	0.995	0.09310	N	1	B	0.14805	0.011	B	0.15052	0.012	T	0.39461	-0.9613	10	0.31617	T	0.26	5.4555	0.2508	0.00205	0.3484:0.2161:0.2341:0.2014	.	1158	Q5VVP1	F75A6_HUMAN	P	1158	ENSP00000329825:H1158P	ENSP00000329825:H1158P	H	-	2	0	FAM75A6	43565210	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.137000	0.00588	-2.971000	0.00286	-0.585000	0.04130	CAC		0.433	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		8	444	0	0	0	1	0	8	444				
OR5D14	219436	broad.mit.edu	37	11	55563840	55563840	+	Missense_Mutation	SNP	G	G	A	rs183124098	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:55563840G>A	ENST00000335605.1	+	1	809	c.809G>A	c.(808-810)cGg>cAg	p.R270Q		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AAAAACTCTCGGCAAACAGTC	0.478													N|||	2	0.000399361	0.0	0.0014	5008	,	,		17122	0.001		0.0	False		,,,				2504	0.0					ENST00000335605.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(808-810)cGg>cAg		olfactory receptor, family 5, subfamily D, member 14							74.0	68.0	70.0					11																	55563840		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563840G>A	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.809G>A	11.37:g.55563840G>A	ENSP00000334456:p.Arg270Gln						p.R270Q	NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN			1	809	+		all_epithelial(135;0.196)	270					Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.809G>A	CCDS31508.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	6.790	0.514742	0.12944	.	.	ENSG00000186113	ENST00000335605	T	0.00107	8.72	5.08	-1.69	0.08186	GPCR, rhodopsin-like superfamily (1);	0.373489	0.18403	N	0.142284	T	0.00073	0.0002	N	0.04063	-0.285	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.25847	-1.0120	10	0.59425	D	0.04	-0.0228	5.3998	0.16288	0.3914:0.0:0.4431:0.1655	.	270	Q8NGL3	OR5DE_HUMAN	Q	270	ENSP00000334456:R270Q	ENSP00000334456:R270Q	R	+	2	0	OR5D14	55320416	0.000000	0.05858	0.000000	0.03702	0.593000	0.36681	-2.267000	0.01170	-0.577000	0.05967	-0.829000	0.03081	CGG		0.478	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		4	264	0	0	0	1	0	4	264				
PCGF1	84759	broad.mit.edu	37	2	74733907	74733907	+	Missense_Mutation	SNP	G	G	A	rs370641896		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:74733907G>A	ENST00000233630.6	-	3	1215	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	LBX2-AS1_ENST00000603175.1_RNA|PCGF1_ENST00000480844.2_5'UTR|LBX2-AS1_ENST00000548978.2_RNA	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	102	Required for repressor activity.				histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TGCATGACCCGGTCCAGTTTG	0.502																																						ENST00000233630.6																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						c.(304-306)Cgg>Tgg		polycomb group ring finger 1		G	TRP/ARG	0,4406		0,0,2203	146.0	129.0	135.0		304	4.8	1.0	2		135	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCGF1	NM_032673.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	102/260	74733907	1,13005	2203	4300	6503	SO:0001583	missense	84759				histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding	g.chr2:74733907G>A	AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.304C>T	2.37:g.74733907G>A	ENSP00000233630:p.Arg102Trp					PCGF1_ENST00000480844.2_5'UTR	p.R102W	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN			3	1215	-			102			Necessary for repressor activity.|No repressor activity.		Q7Z506	Missense_Mutation	SNP	ENST00000233630.6	37	c.304C>T	CCDS1946.2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337545	0.81911	0.0	1.16E-4	ENSG00000115289	ENST00000233630	T	0.18502	2.21	5.69	4.82	0.62117	Zinc finger, RING/FYVE/PHD-type (1);	0.144062	0.47455	D	0.000222	T	0.43100	0.1232	M	0.82823	2.61	0.49483	D	0.999795	D	0.89917	1.0	D	0.83275	0.996	T	0.43956	-0.9359	10	0.87932	D	0	-14.6772	10.3893	0.44158	0.0894:0.0:0.9106:0.0	.	102	Q9BSM1	PCGF1_HUMAN	W	102	ENSP00000233630:R102W	ENSP00000233630:R102W	R	-	1	2	PCGF1	74587415	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.207000	0.51106	1.413000	0.46997	0.655000	0.94253	CGG		0.502	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673		6	457	0	0	0	1	0	6	457				
EIF2D	1939	broad.mit.edu	37	1	206773158	206773158	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:206773158C>T	ENST00000271764.2	-	9	1189	c.981G>A	c.(979-981)gaG>gaA	p.E327E	EIF2D_ENST00000472709.2_5'Flank|EIF2D_ENST00000367114.3_Silent_p.E203E	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	327					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GTATAATCTGCTCCTGCTGCA	0.547																																						ENST00000271764.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(979-981)gaG>gaA		eukaryotic translation initiation factor 2D							124.0	106.0	112.0					1																	206773158		2203	4300	6503	SO:0001819	synonymous_variant	1939				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	g.chr1:206773158C>T	BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.981G>A	1.37:g.206773158C>T						EIF2D_ENST00000367114.3_Silent_p.E203E	p.E327E	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN			9	1189	-			327					Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Silent	SNP	ENST00000271764.2	37	c.981G>A	CCDS1465.1																																																																																				0.547	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1	NM_006893		27	410	0	0	0	1	0	27	410				
HIST1H1A	3024	broad.mit.edu	37	6	26017899	26017899	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:26017899C>T	ENST00000244573.3	-	1	141	c.62G>A	c.(61-63)gGc>gAc	p.G21D	HIST1H3A_ENST00000357647.3_5'Flank	NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	21					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						TGCCTTCTTGCCAGCTAAAGG	0.542											OREG0017237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000244573.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						c.(61-63)gGc>gAc		histone cluster 1, H1a							39.0	41.0	40.0					6																	26017899		2203	4297	6500	SO:0001583	missense	3024				nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr6:26017899C>T	AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"""Histones / Replication-dependent"""	4715	protein-coding gene	gene with protein product		142709	"""H1 histone family, member 1"", ""histone 1, H1a"""	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.62G>A	6.37:g.26017899C>T	ENSP00000244573:p.Gly21Asp		OREG0017237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	783		p.G21D	NM_005325.3	NP_005316.1	Q02539	H11_HUMAN			1	141	-			21					Q3MJ34	Missense_Mutation	SNP	ENST00000244573.3	37	c.62G>A	CCDS4569.1	.	.	.	.	.	.	.	.	.	.	c	13.50	2.254837	0.39896	.	.	ENSG00000124610	ENST00000244573	T	0.08807	3.05	4.26	-1.12	0.09808	.	1.167400	0.06275	N	0.696363	T	0.01765	0.0056	N	0.08118	0	0.09310	N	1	B	0.27559	0.181	B	0.24006	0.05	T	0.45877	-0.9231	10	0.54805	T	0.06	-0.0027	14.9744	0.71261	0.0:0.1661:0.7524:0.0815	.	21	Q02539	H11_HUMAN	D	21	ENSP00000244573:G21D	ENSP00000244573:G21D	G	-	2	0	HIST1H1A	26125878	0.001000	0.12720	0.004000	0.12327	0.022000	0.10575	0.043000	0.13971	-0.144000	0.11314	0.655000	0.94253	GGC		0.542	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	NM_005325		5	372	0	0	0	1	0	5	372				
PCLO	27445	broad.mit.edu	37	7	82784471	82784471	+	Missense_Mutation	SNP	A	A	G	rs199515717		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:82784471A>G	ENST00000333891.9	-	2	1823	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P	PCLO_ENST00000423517.2_Missense_Mutation_p.S496P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S496P(6)|p.?(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTTTGCTGAGCCAGGCTGT	0.607																																						ENST00000423517.2																			9	Substitution - Missense(6)|Unknown(3)	p.S496P(6)|p.?(3)	kidney(6)|prostate(3)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1486-1488)Tca>Cca		piccolo presynaptic cytomatrix protein		A	PRO/SER,PRO/SER	0,3888		0,0,1944	89.0	98.0	95.0		1486,1486	-0.1	0.0	7		95	1,8267		0,1,4133	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	74,74	0,1,6077	GG,GA,AA		0.0121,0.0,0.0082	benign,benign	496/4936,496/5143	82784471	1,12155	1944	4134	6078	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784471A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1486T>C	7.37:g.82784471A>G	ENSP00000334319:p.Ser496Pro					PCLO_ENST00000333891.8_Missense_Mutation_p.S496P	p.S496P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			2	1823	-			442			10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1486T>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	0.210	-1.037056	0.02013	0.0	1.21E-4	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.15372	2.43;2.44	4.64	-0.0778	0.13717	.	.	.	.	.	T	0.04679	0.0127	N	0.00538	-1.39	0.22066	N	0.999381	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37009	-0.9724	9	0.87932	D	0	.	7.1447	0.25577	0.2775:0.116:0.6065:0.0	.	496;496	Q9Y6V0-5;Q9Y6V0-6	.;.	P	496	ENSP00000334319:S496P;ENSP00000388393:S496P	ENSP00000334319:S496P	S	-	1	0	PCLO	82622407	0.659000	0.27411	0.005000	0.12908	0.207000	0.24258	2.928000	0.48908	0.094000	0.17404	-0.379000	0.06801	TCA		0.607	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		13	954	0	0	0	1	0	13	954				
GPR158	57512	broad.mit.edu	37	10	25510077	25510077	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:25510077C>A	ENST00000376351.3	+	2	1358	c.999C>A	c.(997-999)aaC>aaA	p.N333K		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	333					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCCACCTCAACAATTCAGAGG	0.363																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(997-999)aaC>aaA		G protein-coupled receptor 158							89.0	89.0	89.0					10																	25510077		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25510077C>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.999C>A	10.37:g.25510077C>A	ENSP00000365529:p.Asn333Lys						p.N333K	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			2	1358	+			333					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.999C>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842654	0.51057	.	.	ENSG00000151025	ENST00000376351	T	0.59906	0.23	5.37	3.51	0.40186	.	0.157867	0.42053	D	0.000778	T	0.66877	0.2834	L	0.49640	1.575	0.39032	D	0.959954	D	0.67145	0.996	D	0.65684	0.937	T	0.65845	-0.6069	10	0.46703	T	0.11	.	11.8361	0.52325	0.0:0.7809:0.0:0.2191	.	333	Q5T848	GP158_HUMAN	K	333	ENSP00000365529:N333K	ENSP00000365529:N333K	N	+	3	2	GPR158	25550083	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	1.005000	0.29834	0.266000	0.21894	-1.119000	0.02030	AAC		0.363	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		13	216	1	0	0.000151284	1	0.000157862	13	216				
LOC728323	728323	broad.mit.edu	37	2	243037115	243037115	+	RNA	SNP	A	A	G	rs573201469	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:243037115A>G	ENST00000456398.1	+	0	247																											GGCTGGAAGAATTGTGAATCT	0.398													.|||	6	0.00119808	0.0023	0.0029	5008	,	,		17993	0.0		0.001	False		,,,				2504	0.0					ENST00000456398.1																			0																																																			0							g.chr2:243037115A>G																													2.37:g.243037115A>G														0	247	+									RNA	SNP	ENST00000456398.1	37																																																																																						0.398	AC093642.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000322444.2			7	391	0	0	0	1	0	7	391				
MUC5B	727897	broad.mit.edu	37	11	1265999	1265999	+	Missense_Mutation	SNP	T	T	C	rs371763448	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:1265999T>C	ENST00000529681.1	+	31	7947	c.7889T>C	c.(7888-7890)cTt>cCt	p.L2630P	MUC5B_ENST00000447027.1_Missense_Mutation_p.L2633P|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2630	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|RTL -> LTP (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.L2630P(1)|p.L2609P(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCACGCACGCTTCCAGTGTGG	0.637													N|||	3	0.000599042	0.0	0.0014	5008	,	,		18926	0.001		0.001	False		,,,				2504	0.0					ENST00000447027.1																			2	Substitution - Missense(2)	p.L2630P(1)|p.L2609P(1)	lung(2)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(7897-7899)cTt>cCt		mucin 5B, oligomeric mucus/gel-forming							149.0	179.0	169.0					11																	1265999		2124	4236	6360	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1265999T>C	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7889T>C	11.37:g.1265999T>C	ENSP00000436812:p.Leu2630Pro					MUC5B_ENST00000529681.1_Missense_Mutation_p.L2630P|RP11-532E4.2_ENST00000532061.2_RNA	p.L2633P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	7956	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2630	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.7898T>C	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	N	2.858	-0.236815	0.05944	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000537836	T;T	0.24350	1.86;2.05	1.88	-3.77	0.04346	.	.	.	.	.	T	0.15262	0.0368	L	0.33485	1.01	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.29822	-0.9999	9	0.87932	D	0	.	3.6655	0.08254	0.21:0.3112:0.0:0.4788	.	3268;2633	A7Y9J9;E9PBJ0	.;.	P	2630;2633;2602;2645;171	ENSP00000436812:L2630P;ENSP00000415793:L2633P	ENSP00000343037:L2602P	L	+	2	0	MUC5B	1222575	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.943000	0.03917	-0.876000	0.04017	0.172000	0.16884	CTT		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		9	498	0	0	0	1	0	9	498				
LPP	4026	broad.mit.edu	37	3	188592235	188592235	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:188592235G>T	ENST00000312675.4	+	11	2053	c.1807G>T	c.(1807-1809)Gtg>Ttg	p.V603L	LPP_ENST00000543006.1_Missense_Mutation_p.V603L	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	603	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCGCATCAGGGTGTTGACCGC	0.512			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1807-1809)Gtg>Ttg		LIM domain containing preferred translocation partner in lipoma							119.0	108.0	112.0					3																	188592235		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188592235G>T	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1807G>T	3.37:g.188592235G>T	ENSP00000318089:p.Val603Leu					LPP_ENST00000543006.1_Missense_Mutation_p.V603L	p.V603L	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	11	2053	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	603			LIM zinc-binding 3.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.1807G>T	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384829	0.61956	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	T;T	0.54675	0.56;0.56	5.79	4.92	0.64577	Zinc finger, LIM-type (1);	0.173178	0.51477	D	0.000096	T	0.41971	0.1182	L	0.29908	0.895	0.33682	D	0.612234	B;B	0.25955	0.003;0.138	B;B	0.25987	0.003;0.065	T	0.53012	-0.8498	10	0.37606	T	0.19	.	13.6926	0.62556	0.0737:0.0:0.9263:0.0	.	456;603	B7Z8W0;Q93052	.;LPP_HUMAN	L	603	ENSP00000318089:V603L;ENSP00000438891:V603L	ENSP00000318089:V603L	V	+	1	0	LPP	190074929	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	8.025000	0.88777	1.444000	0.47605	0.655000	0.94253	GTG		0.512	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		18	418	1	0	4.96729e-08	1	5.37004e-08	18	418				
KCTD9	54793	broad.mit.edu	37	8	25293809	25293809	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:25293809C>A	ENST00000221200.4	-	8	825	c.605G>T	c.(604-606)cGa>cTa	p.R202L		NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	202					protein homooligomerization (GO:0051260)					breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		AAATTCCTTTCGGGATATTGG	0.378																																						ENST00000221200.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12						c.(604-606)cGa>cTa		potassium channel tetramerization domain containing 9							114.0	123.0	120.0					8																	25293809		2203	4300	6503	SO:0001583	missense	54793					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:25293809C>A	BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"""BTB/POZ domain containing"""	22401	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 9"""			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.605G>T	8.37:g.25293809C>A	ENSP00000221200:p.Arg202Leu						p.R202L	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)	8	825	-		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)	202					Q6NUM8|Q9NXV4	Missense_Mutation	SNP	ENST00000221200.4	37	c.605G>T	CCDS6048.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126967	0.77549	.	.	ENSG00000104756	ENST00000221200	T	0.61742	0.08	5.4	4.52	0.55395	.	0.000000	0.64402	U	0.000002	T	0.45915	0.1366	N	0.24115	0.695	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39563	-0.9608	10	0.59425	D	0.04	.	15.8257	0.78706	0.1371:0.8629:0.0:0.0	.	202	Q7L273	KCTD9_HUMAN	L	202	ENSP00000221200:R202L	ENSP00000221200:R202L	R	-	2	0	KCTD9	25349726	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.487000	0.81328	1.396000	0.46663	0.591000	0.81541	CGA		0.378	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	NM_017634		6	547	1	0	4.096e-09	1	4.46836e-09	6	547				
ZNF845	91664	broad.mit.edu	37	19	53856694	53856694	+	Silent	SNP	A	A	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:53856694A>G	ENST00000595091.1	+	5	2985	c.2766A>G	c.(2764-2766)aaA>aaG	p.K922K	ZNF845_ENST00000458035.1_Silent_p.K922K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	922					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGTGTGGCAAAACCTTCCGTC	0.358																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2764-2766)aaA>aaG		zinc finger protein 845							36.0	33.0	34.0					19																	53856694		692	1591	2283	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856694A>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2766A>G	19.37:g.53856694A>G						ZNF845_ENST00000595091.1_Silent_p.K922K	p.K922K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2883	+			922						Silent	SNP	ENST00000595091.1	37	c.2766A>G	CCDS46170.1																																																																																				0.358	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	121	0	0	0	1	0	4	121				
ANKZF1	55139	broad.mit.edu	37	2	220100575	220100575	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:220100575C>T	ENST00000323348.5	+	12	2123	c.1949C>T	c.(1948-1950)gCc>gTc	p.A650V	ANKZF1_ENST00000409849.1_Missense_Mutation_p.A440V|ANKZF1_ENST00000410034.3_Missense_Mutation_p.A650V|GLB1L_ENST00000497855.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	650						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCGATTTGCCGCCCTCAGT	0.622																																						ENST00000323348.5																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1948-1950)gCc>gTc		ankyrin repeat and zinc finger domain containing 1							107.0	122.0	117.0					2																	220100575		2170	4259	6429	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220100575C>T	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1949C>T	2.37:g.220100575C>T	ENSP00000321617:p.Ala650Val					ANKZF1_ENST00000410034.3_Missense_Mutation_p.A650V|ANKZF1_ENST00000409849.1_Missense_Mutation_p.A440V	p.A650V	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	12	2123	+		Renal(207;0.0474)	650					Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.1949C>T	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	C	16.01	2.999912	0.54147	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	D;D;D	0.94457	-3.43;-3.43;-3.43	5.38	5.38	0.77491	.	0.052384	0.85682	D	0.000000	D	0.93546	0.7940	L	0.58101	1.795	0.51767	D	0.999938	P	0.35982	0.531	B	0.37387	0.248	D	0.92703	0.6176	10	0.44086	T	0.13	-10.735	19.3333	0.94303	0.0:1.0:0.0:0.0	.	650	Q9H8Y5	ANKZ1_HUMAN	V	650;440;650	ENSP00000321617:A650V;ENSP00000386815:A440V;ENSP00000386337:A650V	ENSP00000321617:A650V	A	+	2	0	ANKZF1	219808819	0.995000	0.38212	0.989000	0.46669	0.456000	0.32438	3.301000	0.51842	2.793000	0.96121	0.655000	0.94253	GCC		0.622	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		7	807	0	0	0	1	0	7	807				
TADA2B	93624	broad.mit.edu	37	4	7056454	7056454	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:7056454G>A	ENST00000310074.7	+	2	1125	c.936G>A	c.(934-936)cgG>cgA	p.R312R	TADA2B_ENST00000515646.1_Silent_p.R220R|TADA2B_ENST00000512388.1_Silent_p.R237R	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	312					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R312R(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						AGGCAGCGCGGCATAAACGGG	0.557																																						ENST00000310074.7																			1	Substitution - coding silent(1)	p.R312R(1)	prostate(1)	breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						c.(934-936)cgG>cgA		transcriptional adaptor 2B							57.0	67.0	63.0					4																	7056454		2035	4181	6216	SO:0001819	synonymous_variant	93624				regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr4:7056454G>A	AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.936G>A	4.37:g.7056454G>A						TADA2B_ENST00000515646.1_Silent_p.R220R|TADA2B_ENST00000512388.1_Silent_p.R237R	p.R312R	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN			2	1125	+			312					A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Silent	SNP	ENST00000310074.7	37	c.936G>A	CCDS47007.1																																																																																				0.557	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293		5	316	0	0	0	1	0	5	316				
HRNR	388697	broad.mit.edu	37	1	152191731	152191731	+	Missense_Mutation	SNP	C	C	T	rs374297870		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:152191731C>T	ENST00000368801.2	-	3	2449	c.2374G>A	c.(2374-2376)Ggc>Agc	p.G792S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	792					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGTGTTGGCCGTGGCTGGAG	0.602																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2374-2376)Ggc>Agc		hornerin							69.0	73.0	72.0					1																	152191731		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191731C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2374G>A	1.37:g.152191731C>T	ENSP00000357791:p.Gly792Ser					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G792S	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2449	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		792					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2374G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	7.079	0.569916	0.13560	.	.	ENSG00000197915	ENST00000368801	T	0.05382	3.45	2.54	0.333	0.15943	.	.	.	.	.	T	0.01092	0.0036	L	0.36672	1.1	0.09310	N	1	P	0.41978	0.767	B	0.31245	0.126	T	0.48031	-0.9070	9	0.23891	T	0.37	.	4.4579	0.11652	0.0:0.5922:0.0:0.4078	.	792	Q86YZ3	HORN_HUMAN	S	792	ENSP00000357791:G792S	ENSP00000357791:G792S	G	-	1	0	HRNR	150458355	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.666000	0.05280	-0.051000	0.13334	0.456000	0.33151	GGC		0.602	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		10	292	0	0	0	1	0	10	292				
PCDHGB4	8641	broad.mit.edu	37	5	140768992	140768992	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:140768992C>T	ENST00000519479.1	+	1	1541	c.1541C>T	c.(1540-1542)gCg>gTg	p.A514V	PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	514	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTGTTCGCGCAGCGCGCC	0.667																																						ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(1540-1542)gCg>gTg									47.0	53.0	51.0					5																	140768992		2044	4181	6225	SO:0001583	missense	0							g.chr5:140768992C>T	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1541C>T	5.37:g.140768992C>T	ENSP00000428288:p.Ala514Val					PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron	p.A514V	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1541	+								O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1541C>T	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	35	5.443208	0.96187	.	.	ENSG00000253953	ENST00000519479	T	0.43294	0.95	4.95	4.95	0.65309	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.54498	0.1862	L	0.31578	0.945	0.38208	D	0.940379	D;D	0.89917	0.994;1.0	P;D	0.79108	0.89;0.992	T	0.62364	-0.6870	9	0.87932	D	0	.	18.196	0.89822	0.0:1.0:0.0:0.0	.	514;514	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	V	514	ENSP00000428288:A514V	ENSP00000428288:A514V	A	+	2	0	PCDHGB4	140749176	0.314000	0.24563	1.000000	0.80357	0.974000	0.67602	1.731000	0.38135	2.446000	0.82766	0.563000	0.77884	GCG		0.667	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		13	488	0	0	0	1	0	13	488				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		11	337	0	0	0	1	0	11	337				
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	99						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473																																						ENST00000342960.5																			1	Substitution - Missense(1)	p.V99F(1)	kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(295-297)Gtt>Ttt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145296373G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.295G>T	1.37:g.145296373G>T	ENSP00000345684:p.Val99Phe					NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	p.V99F	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	330	+	all_hematologic(923;0.032)		99					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.295G>T	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249076	0.22880	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.03889	3.77	1.15	-0.158	0.13383	.	.	.	.	.	T	0.03220	0.0094	M	0.72479	2.2	0.09310	N	1	.	.	.	.	.	.	T	0.38757	-0.9646	7	0.87932	D	0	.	3.0726	0.06236	0.7069:0.0:0.2931:0.0	rs3969711;rs4996270	.	.	.	F	99;24;99	ENSP00000345684:V99F	ENSP00000345684:V99F	V	+	1	0	NBPF10	144007730	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.057000	0.14279	-0.026000	0.13895	0.121000	0.15741	GTT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	358	1	0	0.000673444	1	0.000693676	5	358				
RP11-156P1.3	0	broad.mit.edu	37	17	45128651	45128651	+	RNA	SNP	G	G	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:45128651G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							ttgtttttttgttttttttAG	0.299																																						ENST00000575173.1																			0																																																			0							g.chr17:45128651G>T																													17.37:g.45128651G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.299	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			6	270	1	0	3.09899e-07	1	3.33523e-07	6	270				
GPR125	166647	broad.mit.edu	37	4	22414907	22414907	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:22414907G>A	ENST00000334304.5	-	14	2399	c.2130C>T	c.(2128-2130)aaC>aaT	p.N710N	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	710	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTCCTTGTCCGTTCAGCAAAT	0.453																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2128-2130)aaC>aaT		G protein-coupled receptor 125							170.0	166.0	167.0					4																	22414907		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22414907G>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2130C>T	4.37:g.22414907G>A						GPR125_ENST00000282943.5_5'UTR	p.N710N	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			14	2399	-		Breast(46;0.198)	710			GPS.		Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.2130C>T	CCDS33964.1																																																																																				0.453	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			6	786	0	0	0	1	0	6	786				
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10558-10560)ggC>ggT		zinc finger homeobox 3							10.0	14.0	12.0					16																	72821615		1455	3158	4613	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821615G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10560C>T	16.37:g.72821615G>A						AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G	p.G3520G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11232	-		Ovarian(137;0.13)	3520			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10560C>T	CCDS10908.1																																																																																				0.706	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		9	168	0	0	0	1	0	9	168				
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs374686280		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ACTACCCAGATGAGCTGCAGT	0.488																																						ENST00000603901.1																			0																																																			0							g.chr7:142481789T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481789T>C								NR_001296.3						0	468	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.488	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		10	268	0	0	0	1	0	10	268				
FRG1B	284802	broad.mit.edu	37	20	29628320	29628320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr20:29628320G>T	ENST00000278882.3	+	6	702	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	FRG1B_ENST00000439954.2_Nonsense_Mutation_p.E113*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E108*			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	108										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGGAGAAGAAGAAATGATCAA	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(322-324)Gaa>Taa																																						SO:0001587	stop_gained	0							g.chr20:29628320G>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.322G>T	20.37:g.29628320G>T	ENSP00000278882:p.Glu108*					FRG1B_ENST00000439954.2_Nonsense_Mutation_p.E113*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E108*	p.E108*							6	702	+								C4AME5	Nonsense_Mutation	SNP	ENST00000278882.3	37	c.322G>T		.	.	.	.	.	.	.	.	.	.	g	21.0	4.076413	0.76415	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	2.08	2.08	0.27032	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	.	.	.	X	108;113;108	.	ENSP00000278882:E108X	E	+	1	0	FRG1B	28241981	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	6.601000	0.74136	1.475000	0.48197	0.423000	0.28283	GAA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	286	1	0	3.52763e-06	1	3.76281e-06	8	286				
PCDHGA10	56106	broad.mit.edu	37	5	140792948	140792948	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:140792948G>A	ENST00000398610.2	+	1	206	c.206G>A	c.(205-207)cGc>cAc	p.R69H	PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	69	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGAGTCCGCATAGTCTCC	0.607																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(205-207)cGc>cAc									61.0	76.0	71.0					5																	140792948		2107	4261	6368	SO:0001583	missense	0							g.chr5:140792948G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.206G>A	5.37:g.140792948G>A	ENSP00000381611:p.Arg69His					PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron	p.R69H	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	206	+								Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.206G>A	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	g	17.12	3.308170	0.60305	.	.	ENSG00000253846	ENST00000398610	T	0.38240	1.15	5.62	5.62	0.85841	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.54271	0.1848	M	0.93106	3.38	0.27629	N	0.9481	P;P	0.50710	0.923;0.938	B;P	0.47981	0.427;0.563	T	0.62048	-0.6936	9	0.48119	T	0.1	.	9.8976	0.41329	0.1519:0.0:0.8481:0.0	.	69;69	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	H	69	ENSP00000381611:R69H	ENSP00000381611:R69H	R	+	2	0	PCDHGA10	140773132	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.477000	0.66799	2.639000	0.89480	0.557000	0.71058	CGC		0.607	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		6	730	0	0	0	1	0	6	730				
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(982-984)ccT>ccC		mucin 16, cell surface associated							96.0	95.0	96.0					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G							p.P328P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	347	0	0	0	1	0	4	347				
COG8	84342	broad.mit.edu	37	16	69368827	69368827	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:69368827C>T	ENST00000306875.4	-	3	1124	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	COG8_ENST00000562081.1_Missense_Mutation_p.G337D|RP11-343C2.12_ENST00000562949.1_5'Flank	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	337					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GCCGCCTATGCCCCGGTAAAG	0.582																																						ENST00000306875.4																			0				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						c.(1009-1011)gGc>gAc		component of oligomeric golgi complex 8							56.0	55.0	56.0					16																	69368827		2198	4300	6498	SO:0001583	missense	84342				protein transport	Golgi membrane|Golgi transport complex		g.chr16:69368827C>T	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.1010G>A	16.37:g.69368827C>T	ENSP00000305459:p.Gly337Asp					COG8_ENST00000562081.1_Missense_Mutation_p.G337D	p.G337D	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN			3	1124	-			337					Q0VAK2|Q8WVV6|Q9H6F8	Missense_Mutation	SNP	ENST00000306875.4	37	c.1010G>A	CCDS10876.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255165	0.80135	.	.	ENSG00000213380	ENST00000306875	T	0.43688	0.94	5.93	5.93	0.95920	Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.44953	0.1318	L	0.48935	1.535	0.80722	D	1	B;B	0.34103	0.437;0.437	B;B	0.41174	0.349;0.349	T	0.15578	-1.0432	10	0.12430	T	0.62	-3.5502	20.3363	0.98740	0.0:1.0:0.0:0.0	.	364;337	B4DYU2;Q96MW5	.;COG8_HUMAN	D	337	ENSP00000305459:G337D	ENSP00000305459:G337D	G	-	2	0	COG8	67926328	1.000000	0.71417	0.556000	0.28293	0.972000	0.66771	7.441000	0.80485	2.814000	0.96858	0.563000	0.77884	GGC		0.582	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382		5	435	0	0	0	1	0	5	435				
KAT6A	7994	broad.mit.edu	37	8	41791386	41791386	+	Missense_Mutation	SNP	G	G	A	rs148148486		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:41791386G>A	ENST00000396930.3	-	18	4895	c.4352C>T	c.(4351-4353)gCg>gTg	p.A1451V	KAT6A_ENST00000265713.2_Missense_Mutation_p.A1451V|KAT6A_ENST00000406337.1_Missense_Mutation_p.A1451V	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1451					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CTGACACGCCGCAAGAGTTTC	0.527																																						ENST00000396930.3																			0											c.(4351-4353)gCg>gTg		K(lysine) acetyltransferase 6A		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	120.0	108.0	112.0		4352,4352,4352	6.0	0.3	8	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KAT6A	NM_001099412.1,NM_001099413.1,NM_006766.3	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1451/2005,1451/2005,1451/2005	41791386	1,13005	2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41791386G>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4352C>T	8.37:g.41791386G>A	ENSP00000380136:p.Ala1451Val					KAT6A_ENST00000406337.1_Missense_Mutation_p.A1451V|KAT6A_ENST00000265713.2_Missense_Mutation_p.A1451V	p.A1451V	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	4895	-			1451					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.4352C>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965995	0.34659	0.0	1.16E-4	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.62105	0.05;0.05;0.05	5.96	5.96	0.96718	.	0.067965	0.64402	D	0.000009	T	0.66906	0.2837	N	0.24115	0.695	0.58432	D	0.999995	D	0.71674	0.998	P	0.58620	0.842	T	0.68334	-0.5436	10	0.56958	D	0.05	-17.023	20.4043	0.99006	0.0:0.0:1.0:0.0	.	1451	Q92794	KAT6A_HUMAN	V	1451	ENSP00000265713:A1451V;ENSP00000385888:A1451V;ENSP00000380136:A1451V	ENSP00000265713:A1451V	A	-	2	0	KAT6A	41910543	1.000000	0.71417	0.315000	0.25238	0.008000	0.06430	6.130000	0.71663	2.823000	0.97156	0.650000	0.86243	GCG		0.527	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		5	642	0	0	0	1	0	5	642				
CCDC74B	91409	broad.mit.edu	37	2	130897862	130897862	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:130897862C>T	ENST00000310463.6	-	5	903	c.766G>A	c.(766-768)Gca>Aca	p.A256T	MED15P9_ENST00000427638.1_RNA|CCDC74B_ENST00000409943.3_Missense_Mutation_p.A190T|CCDC74B_ENST00000392984.3_Missense_Mutation_p.A358T	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	256										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GGGGGGTGTGCCGCCGCCCCC	0.602																																						ENST00000392984.3																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(1072-1074)Gca>Aca		coiled-coil domain containing 74B							100.0	106.0	104.0					2																	130897862		2203	4300	6503	SO:0001583	missense	91409							g.chr2:130897862C>T		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.766G>A	2.37:g.130897862C>T	ENSP00000308873:p.Ala256Thr					CCDC74B_ENST00000310463.6_Missense_Mutation_p.A256T|CCDC74B_ENST00000409943.3_Missense_Mutation_p.A190T	p.A358T			Q96LY2	CC74B_HUMAN			4	1815	-	Colorectal(110;0.1)		256					Q6NW18	Missense_Mutation	SNP	ENST00000310463.6	37	c.1072G>A	CCDS2155.1	.	.	.	.	.	.	.	.	.	.	.	2.057	-0.416245	0.04766	.	.	ENSG00000152076	ENST00000409943;ENST00000310463;ENST00000392984	T;T;T	0.25414	1.9;1.88;1.8	0.13	0.13	0.14746	.	0.341744	0.15643	U	0.251779	T	0.16685	0.0401	L	0.50333	1.59	0.09310	N	1	P;B;B	0.39424	0.673;0.012;0.017	B;B;B	0.32022	0.139;0.01;0.009	T	0.12167	-1.0558	9	0.32370	T	0.25	.	.	.	.	.	358;190;256	E7ESC5;Q96LY2-2;Q96LY2	.;.;CC74B_HUMAN	T	190;256;358	ENSP00000386294:A190T;ENSP00000308873:A256T;ENSP00000376710:A358T	ENSP00000308873:A256T	A	-	1	0	CCDC74B	130614332	0.018000	0.18449	0.009000	0.14445	0.048000	0.14542	-0.679000	0.05203	0.184000	0.20083	0.187000	0.17357	GCA		0.602	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310		7	920	0	0	0	1	0	7	920				
EEF2	1938	broad.mit.edu	37	19	3982349	3982349	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:3982349G>A	ENST00000309311.6	-	5	774	c.686C>T	c.(685-687)gCc>gTc	p.A229V	EEF2_ENST00000600720.1_5'Flank|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	229	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ATACATCTCGGCAAACTGCTT	0.602																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(685-687)gCc>gTc		eukaryotic translation elongation factor 2							80.0	80.0	80.0					19																	3982349		2203	4300	6503	SO:0001583	missense	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3982349G>A	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.686C>T	19.37:g.3982349G>A	ENSP00000307940:p.Ala229Val						p.A229V	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	5	774	-		Hepatocellular(1079;0.137)	229					B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	37	c.686C>T	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038606	0.93630	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.29142	1.58	5.81	4.78	0.61160	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.51160	0.1658	M	0.87097	2.86	0.80722	D	1	P	0.45348	0.856	P	0.50270	0.636	T	0.61267	-0.7097	10	0.87932	D	0	-12.7913	13.9308	0.63994	0.0728:0.0:0.9272:0.0	.	229	P13639	EF2_HUMAN	V	229	ENSP00000307940:A229V	ENSP00000307940:A229V	A	-	2	0	EEF2	3933349	1.000000	0.71417	0.069000	0.20011	0.905000	0.53344	9.808000	0.99193	1.469000	0.48083	0.561000	0.74099	GCC		0.602	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		5	366	0	0	0	1	0	5	366				
LRRC37A4P	55073	broad.mit.edu	37	17	43587708	43587708	+	RNA	SNP	A	A	G	rs574499127	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:43587708A>G	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		AACAACCACCATCTCCAAATC	0.348													A|||	33	0.00658946	0.0023	0.0058	5008	,	,		18816	0.002		0.0219	False		,,,				2504	0.002					ENST00000253803.2																			0																																																			0							g.chr17:43587708A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587708A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.348	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		7	267	0	0	0	1	0	7	267				
TNFRSF19	55504	broad.mit.edu	37	13	24242948	24242948	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr13:24242948C>T	ENST00000382258.4	+	9	1161	c.957C>T	c.(955-957)aaC>aaT	p.N319N	TNFRSF19_ENST00000403372.2_Silent_p.N187N|TNFRSF19_ENST00000248484.4_Silent_p.N319N|TNFRSF19_ENST00000382263.3_Silent_p.N319N	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	319					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GTGGTGACAACATCTCTTTTT	0.478																																						ENST00000382263.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(955-957)aaC>aaT		tumor necrosis factor receptor superfamily, member 19							168.0	158.0	161.0					13																	24242948		2203	4300	6503	SO:0001819	synonymous_variant	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24242948C>T	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.957C>T	13.37:g.24242948C>T						TNFRSF19_ENST00000248484.4_Silent_p.N319N|TNFRSF19_ENST00000403372.2_Silent_p.N187N|TNFRSF19_ENST00000382258.4_Silent_p.N319N	p.N319N	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	9	1141	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	319					A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Silent	SNP	ENST00000382258.4	37	c.957C>T	CCDS9302.1																																																																																				0.478	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		33	616	0	0	0	1	0	33	616				
CCDC80	151887	broad.mit.edu	37	3	112357638	112357638	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:112357638G>A	ENST00000206423.3	-	2	2068	c.1115C>T	c.(1114-1116)gCt>gTt	p.A372V	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Missense_Mutation_p.A372V	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	372	Thr-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						AGGTCTTGCAGCAACTGTTAC	0.642																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(1114-1116)gCt>gTt		coiled-coil domain containing 80							81.0	71.0	75.0					3																	112357638		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112357638G>A	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1115C>T	3.37:g.112357638G>A	ENSP00000206423:p.Ala372Val					CCDC80_ENST00000439685.2_Missense_Mutation_p.A372V	p.A372V	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			2	2068	-			372			Thr-rich.		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.1115C>T	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814389	0.70912	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.49139	0.79;0.79	4.89	4.89	0.63831	.	0.110597	0.64402	D	0.000007	T	0.36936	0.0985	L	0.27053	0.805	0.80722	D	1	B;P;B	0.41393	0.419;0.748;0.295	B;B;B	0.37650	0.187;0.255;0.091	T	0.16100	-1.0414	10	0.30078	T	0.28	-7.3048	18.2349	0.89946	0.0:0.0:1.0:0.0	.	383;372;372	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	V	372	ENSP00000206423:A372V;ENSP00000411814:A372V	ENSP00000206423:A372V	A	-	2	0	CCDC80	113840328	0.994000	0.37717	0.108000	0.21378	0.034000	0.12701	5.501000	0.66950	2.535000	0.85469	0.555000	0.69702	GCT		0.642	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		5	420	0	0	0	1	0	5	420				
DHX32	55760	broad.mit.edu	37	10	127540897	127540897	+	Missense_Mutation	SNP	G	G	A	rs143704757	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:127540897G>A	ENST00000284690.3	-	6	1806	c.1316C>T	c.(1315-1317)gCg>gTg	p.A439V	BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.A358V|DHX32_ENST00000368721.1_Missense_Mutation_p.A63V	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	439						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GCCTAGGCCCGCAATGTCTAT	0.498																																						ENST00000284690.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29						c.(1315-1317)gCg>gTg		DEAH (Asp-Glu-Ala-His) box polypeptide 32		G	,VAL/ALA	0,4406		0,0,2203	153.0	141.0	145.0		,1316	5.7	1.0	10	dbSNP_134	145	4,8596	3.7+/-12.6	0,4,4296	yes	intron,missense	DHX32,BCCIP	NM_016567.3,NM_018180.2	,64	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,probably-damaging	,439/744	127540897	4,13002	2203	4300	6503	SO:0001583	missense	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127540897G>A		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1316C>T	10.37:g.127540897G>A	ENSP00000284690:p.Ala439Val					DHX32_ENST00000284688.6_Missense_Mutation_p.A358V|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.A63V	p.A439V	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN			6	1806	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	439					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	c.1316C>T	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	G	31	5.067881	0.93950	0.0	4.65E-4	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.18016	2.24;3.99;3.72	5.72	5.72	0.89469	.	0.056069	0.64402	D	0.000001	T	0.39517	0.1081	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.939;0.996	T	0.06162	-1.0842	10	0.87932	D	0	-28.254	18.885	0.92372	0.0:0.0:1.0:0.0	.	358;439	Q7L7V1-2;Q7L7V1	.;DHX32_HUMAN	V	63;439;358	ENSP00000357710:A63V;ENSP00000284690:A439V;ENSP00000284688:A358V	ENSP00000284688:A358V	A	-	2	0	DHX32	127530887	1.000000	0.71417	0.978000	0.43139	0.977000	0.68977	7.429000	0.80309	2.691000	0.91804	0.655000	0.94253	GCG		0.498	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		5	228	0	0	0	1	0	5	228				
RBMXL2	27288	broad.mit.edu	37	11	7111053	7111053	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:7111053G>A	ENST00000306904.5	+	1	889	c.702G>A	c.(700-702)tcG>tcA	p.S234S		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	234	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTGCCCCCTCGCCCGGAGAGT	0.687																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(700-702)tcG>tcA		RNA binding motif protein, X-linked-like 2							17.0	19.0	18.0					11																	7111053		2189	4272	6461	SO:0001819	synonymous_variant	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111053G>A	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.702G>A	11.37:g.7111053G>A							p.S234S	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	889	+			234			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Silent	SNP	ENST00000306904.5	37	c.702G>A	CCDS7777.1																																																																																				0.687	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		11	163	0	0	0	1	0	11	163				
PTCH2	8643	broad.mit.edu	37	1	45307637	45307637	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:45307637G>A	ENST00000372192.3	-	2	277	c.147C>T	c.(145-147)tgC>tgT	p.C49C	PTCH2_ENST00000447098.2_Silent_p.C49C	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	49					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)	p.C49C(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TCTGGATCCCGCATCCCAGAG	0.557									Basal Cell Nevus syndrome																													ENST00000447098.2																			1	Substitution - coding silent(1)	p.C49C(1)	lung(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(145-147)tgC>tgT		patched 2							113.0	112.0	112.0					1																	45307637		2203	4300	6503	SO:0001819	synonymous_variant	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45307637G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.147C>T	1.37:g.45307637G>A						PTCH2_ENST00000372192.3_Silent_p.C49C	p.C49C	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			2	158	-	Acute lymphoblastic leukemia(166;0.155)		49					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	ENST00000372192.3	37	c.147C>T	CCDS516.1																																																																																				0.557	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		7	678	0	0	0	1	0	7	678				
MAGEA12	4111	broad.mit.edu	37	X	151896589	151896589	+	IGR	SNP	C	C	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:151896589C>A	ENST00000357916.4	-	0	1664				CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12									p.L11F(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGTTGGACAATGGGCTGG	0.557																																						ENST00000361201.4																			1	Substitution - Missense(1)	p.L11F(1)	kidney(1)	endometrium(2)|kidney(2)|lung(1)	5																																												SO:0001628	intergenic_variant	0							g.chrX:151896589C>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650		X.37:g.151896589C>A								NR_073432.1						0	351	-								Q9NSD3	RNA	SNP	ENST00000357916.4	37		CCDS14710.1																																																																																				0.557	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		10	776	1	0	0.0135373	1	0.013651	10	776				
DPP4	1803	broad.mit.edu	37	2	162875264	162875264	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:162875264C>T	ENST00000360534.3	-	16	1955	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	DPP4_ENST00000491591.1_5'Flank	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	465					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A465A(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	GATAATACTTCGCCTCTTTAC	0.473																																						ENST00000360534.3																			2	Substitution - coding silent(2)	p.A465A(2)	large_intestine(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(1393-1395)gcG>gcA		dipeptidyl-peptidase 4	Sitagliptin(DB01261)						128.0	116.0	120.0					2																	162875264		2203	4300	6503	SO:0001819	synonymous_variant	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162875264C>T	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1395G>A	2.37:g.162875264C>T							p.A465A	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			16	1955	-			465					Q53TN1	Silent	SNP	ENST00000360534.3	37	c.1395G>A	CCDS2216.1																																																																																				0.473	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			15	338	0	0	0	1	0	15	338				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		15	240	0	0	0	1	0	15	240				
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S155S(4)	urinary_tract(1)|large_intestine(1)|lung(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(463-465)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414379G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.465C>T	9.37:g.20414379G>A						MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S155S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	751	-			155			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.465C>T	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		7	212	0	0	0	1	0	7	212				
DRAP1	10589	broad.mit.edu	37	11	65687891	65687891	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:65687891A>G	ENST00000312515.2	+	4	532	c.287A>G	c.(286-288)gAc>gGc	p.D96G	DRAP1_ENST00000527119.1_Missense_Mutation_p.D52G|DRAP1_ENST00000532933.1_Missense_Mutation_p.D76G|C11orf68_ENST00000449692.3_5'Flank|C11orf68_ENST00000530188.1_5'Flank|C11orf68_ENST00000438576.2_5'Flank|DRAP1_ENST00000376991.2_Missense_Mutation_p.D96G	NM_006442.3	NP_006433.2	Q14919	NC2A_HUMAN	DR1-associated protein 1 (negative cofactor 2 alpha)	96					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	5				READ - Rectum adenocarcinoma(159;0.166)		ATGCAGGGGGACGGGGAAGAC	0.637																																						ENST00000312515.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	5						c.(286-288)gAc>gGc		DR1-associated protein 1 (negative cofactor 2 alpha)							72.0	79.0	76.0					11																	65687891		2201	4296	6497	SO:0001583	missense	10589				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr11:65687891A>G	U41843	CCDS8123.1	11q13	2010-09-29			ENSG00000175550	ENSG00000175550			3019	protein-coding gene	gene with protein product	"""negative cofactor 2 alpha"", ""DR1-associated corepressor"""	602289				8608938	Standard	NM_006442		Approved	NC2-alpha	uc001ogj.2	Q14919	OTTHUMG00000166723	ENST00000312515.2:c.287A>G	11.37:g.65687891A>G	ENSP00000307850:p.Asp96Gly					DRAP1_ENST00000376991.2_Missense_Mutation_p.D96G|DRAP1_ENST00000527119.1_Missense_Mutation_p.D52G|DRAP1_ENST00000532933.1_Missense_Mutation_p.D76G	p.D96G	NM_006442.3	NP_006433.2	Q14919	NC2A_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	4	532	+			96					Q13448	Missense_Mutation	SNP	ENST00000312515.2	37	c.287A>G	CCDS8123.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.831383	0.50845	.	.	ENSG00000175550	ENST00000312515;ENST00000525501;ENST00000376991;ENST00000527119;ENST00000532933	.	.	.	4.33	4.33	0.51752	Histone-fold (1);	0.062082	0.64402	D	0.000008	T	0.48786	0.1519	L	0.48642	1.525	0.58432	D	0.999999	B	0.34015	0.435	B	0.32393	0.145	T	0.51332	-0.8719	9	0.44086	T	0.13	-6.8611	11.7748	0.51979	1.0:0.0:0.0:0.0	.	96	Q14919	NC2A_HUMAN	G	96;57;96;52;76	.	ENSP00000307850:D96G	D	+	2	0	DRAP1	65444467	1.000000	0.71417	0.926000	0.36857	0.587000	0.36485	8.228000	0.89789	1.744000	0.51775	0.533000	0.62120	GAC		0.637	DRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391197.2	NM_006442		6	680	0	0	0	1	0	6	680				
PRKCG	5582	broad.mit.edu	37	19	54392899	54392899	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:54392899G>A	ENST00000263431.3	+	4	575	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	PRKCG_ENST00000536044.1_Missense_Mutation_p.R98Q|PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000540413.1_Missense_Mutation_p.R98Q	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	98					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CAGGACCCCCGGAACAAACAC	0.602																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(292-294)cGg>cAg		protein kinase C, gamma							57.0	50.0	52.0					19																	54392899		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54392899G>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.293G>A	19.37:g.54392899G>A	ENSP00000263431:p.Arg98Gln					PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000540413.1_Missense_Mutation_p.R98Q|PRKCG_ENST00000536044.1_Missense_Mutation_p.R98Q	p.R98Q	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	4	575	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		98					B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.293G>A	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574096	0.65765	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000419486	D;D;D	0.84370	-1.84;-1.84;-1.84	4.54	4.54	0.55810	.	.	.	.	.	D	0.82499	0.5050	M	0.74881	2.28	0.80722	D	1	P;B;P;P	0.43701	0.769;0.425;0.815;0.679	B;B;B;B	0.33121	0.149;0.066;0.111;0.158	D	0.84896	0.0839	9	0.45353	T	0.12	.	15.2147	0.73254	0.0:0.0:1.0:0.0	.	98;98;98;98	F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;KPCG_HUMAN	Q	98;98;98;121	ENSP00000440541:R98Q;ENSP00000443493:R98Q;ENSP00000263431:R98Q	ENSP00000263431:R98Q	R	+	2	0	PRKCG	59084711	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.634000	0.61325	2.260000	0.74910	0.644000	0.83932	CGG		0.602	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		9	248	0	0	0	1	0	9	248				
FRG1	2483	broad.mit.edu	37	4	190878646	190878646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:190878646G>T	ENST00000226798.4	+	6	748	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	176					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E176*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGGAGAAGAAGAAATGATCAA	0.373																																						ENST00000226798.4																			1	Substitution - Nonsense(1)	p.E176*(1)	central_nervous_system(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(526-528)Gaa>Taa		FSHD region gene 1							48.0	44.0	45.0					4																	190878646		2179	4274	6453	SO:0001587	stop_gained	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878646G>T	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.526G>T	4.37:g.190878646G>T	ENSP00000226798:p.Glu176*					FRG1_ENST00000514482.1_3'UTR	p.E176*	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	748	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	176					A8K775	Nonsense_Mutation	SNP	ENST00000226798.4	37	c.526G>T	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	34	5.401103	0.96030	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	.	.	.	4.29	3.44	0.39384	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-3.1825	10.4286	0.44393	0.0989:0.0:0.9011:0.0	.	.	.	.	X	176;48;113	.	ENSP00000226798:E176X	E	+	1	0	FRG1	191115640	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.376000	0.73141	0.937000	0.37394	0.454000	0.30748	GAA		0.373	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		11	245	1	0	2.31682e-05	1	2.4495e-05	11	245				
ZNF99	7652	broad.mit.edu	37	19	22940429	22940429	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:22940429C>G	ENST00000596209.1	-	4	2372	c.2282G>C	c.(2281-2283)tGc>tCc	p.C761S	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.C670S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	761					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C670S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTCACATTTGCAGGGTTTCTC	0.358																																						ENST00000397104.3																			1	Substitution - Missense(1)	p.C670S(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2008-2010)tGc>tCc		zinc finger protein 99																																				SO:0001583	missense	7652							g.chr19:22940429C>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2282G>C	19.37:g.22940429C>G	ENSP00000472969:p.Cys761Ser					ZNF99_ENST00000596209.1_Missense_Mutation_p.C761S	p.C670S							5	2008	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2009G>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	3.041	-0.197479	0.06259	.	.	ENSG00000213973	ENST00000397104	T	0.14640	2.49	0.718	-1.22	0.09494	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08980	0.0222	N	0.16656	0.425	0.09310	N	1	B	0.30824	0.296	B	0.39660	0.306	T	0.40701	-0.9549	9	0.72032	D	0.01	.	1.9738	0.03412	0.2626:0.2044:0.0:0.533	.	670	A8MXY4	ZNF99_HUMAN	S	670	ENSP00000380293:C670S	ENSP00000380293:C670S	C	-	2	0	ZNF99	22732269	0.000000	0.05858	0.001000	0.08648	0.140000	0.21249	-0.888000	0.04148	-0.230000	0.09840	-0.741000	0.03529	TGC		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		8	209	0	0	0	1	0	8	209				
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367484.3_Silent_p.T336T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1129-1131)acC>acT		proteoglycan 4							171.0	164.0	166.0					1																	186275982		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186275982C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1131C>T	1.37:g.186275982C>T						PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T	p.T377T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1176	+			377			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1131C>T	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		6	784	0	0	0	1	0	6	784				
HHIPL2	79802	broad.mit.edu	37	1	222696153	222696153	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:222696153G>A	ENST00000343410.6	-	9	2023	c.1965C>T	c.(1963-1965)ggC>ggT	p.G655G	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	655					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCTGGGCTGGGCCAGAAGCTA	0.458																																						ENST00000343410.6																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1963-1965)ggC>ggT		HHIP-like 2							109.0	114.0	112.0					1																	222696153		2203	4300	6503	SO:0001819	synonymous_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222696153G>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1965C>T	1.37:g.222696153G>A						HHIPL2_ENST00000473144.1_5'UTR	p.G655G	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	9	2023	-			655					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	c.1965C>T	CCDS1530.2																																																																																				0.458	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		6	793	0	0	0	1	0	6	793				
AC018462.2	0	broad.mit.edu	37	2	62373942	62373942	+	RNA	SNP	C	C	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:62373942C>A	ENST00000425966.2	-	0	74				AC018462.2_ENST00000421323.1_RNA																							AACCTACCTACCATTGCGCTG	0.537																																						ENST00000425966.2																			0																																																			0							g.chr2:62373942C>A																													2.37:g.62373942C>A						AC018462.2_ENST00000421323.1_RNA								0	74	-									RNA	SNP	ENST00000425966.2	37																																																																																						0.537	AC018462.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000326542.3			5	355	1	0	1	1	1	5	355				
SLC35G3	146861	broad.mit.edu	37	17	33520392	33520392	+	Missense_Mutation	SNP	G	G	C	rs375936006		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:33520392G>C	ENST00000297307.5	-	1	1020	c.935C>G	c.(934-936)gCg>gGg	p.A312G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	312	EamA 2.					integral component of membrane (GO:0016021)		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567																																						ENST00000297307.5																			4	Substitution - Missense(4)	p.A312G(4)	kidney(4)								c.(934-936)gCg>gGg		solute carrier family 35, member G3							142.0	127.0	132.0					17																	33520392		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520392G>C	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.935C>G	17.37:g.33520392G>C	ENSP00000297307:p.Ala312Gly						p.A312G	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1020	-			312			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.935C>G	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.804722	0.00611	.	.	ENSG00000164729	ENST00000297307	T	0.57273	0.41	.	.	.	.	0.000000	0.45126	N	0.000398	T	0.11067	0.0270	N	0.01048	-1.04	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.30475	-0.9977	8	0.02654	T	1	-1.3046	.	.	.	.	312	Q8N808	S35G3_HUMAN	G	312	ENSP00000297307:A312G	ENSP00000297307:A312G	A	-	2	0	SLC35G3	30544505	1.000000	0.71417	0.032000	0.17829	0.032000	0.12392	1.924000	0.40065	-2.418000	0.00566	-2.366000	0.00237	GCG		0.567	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		8	660	0	0	0	1	0	8	660				
OTX1	5013	broad.mit.edu	37	2	63283271	63283271	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:63283271C>T	ENST00000282549.2	+	5	1161	c.885C>T	c.(883-885)caC>caT	p.H295H	OTX1_ENST00000366671.3_Silent_p.H295H	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	295	His-rich.				anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					accaccaccaccatcaccacc	0.637																																						ENST00000366671.3																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(883-885)caC>caT		orthodenticle homeobox 1							102.0	77.0	85.0					2																	63283271		2203	4300	6503	SO:0001819	synonymous_variant	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283271C>T		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.885C>T	2.37:g.63283271C>T						OTX1_ENST00000282549.2_Silent_p.H295H	p.H295H	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN			5	1161	+	Lung NSC(7;0.121)|all_lung(7;0.211)		295			His-rich.		A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	c.885C>T	CCDS1873.1																																																																																				0.637	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			10	402	0	0	0	1	0	10	402				
SCN11A	11280	broad.mit.edu	37	3	38913712	38913712	+	Missense_Mutation	SNP	C	C	T	rs367743263		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:38913712C>T	ENST00000302328.3	-	20	3665	c.3467G>A	c.(3466-3468)cGt>cAt	p.R1156H	SCN11A_ENST00000444237.2_Missense_Mutation_p.R1156H|SCN11A_ENST00000456224.3_Missense_Mutation_p.R1118H|SCN11A_ENST00000450244.1_Missense_Mutation_p.R1156H	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1156					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGACAGCGCACGAAGAGGCCT	0.463																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(3466-3468)cGt>cAt		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)	C	HIS/ARG	0,4406		0,0,2203	160.0	156.0	157.0		3467	5.5	0.0	3		157	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCN11A	NM_014139.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1156/1792	38913712	1,13005	2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38913712C>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3467G>A	3.37:g.38913712C>T	ENSP00000307599:p.Arg1156His					SCN11A_ENST00000456224.3_Missense_Mutation_p.R1118H|SCN11A_ENST00000450244.1_Missense_Mutation_p.R1156H|SCN11A_ENST00000444237.2_Missense_Mutation_p.R1156H	p.R1156H	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	20	3665	-			1156					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.3467G>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691614	0.68271	0.0	1.16E-4	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94	5.54	5.54	0.83059	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99369	0.9778	H	0.96833	3.89	0.40458	D	0.980215	D	0.89917	1.0	D	0.97110	1.0	D	0.98977	1.0803	10	0.87932	D	0	.	18.0499	0.89344	0.0:1.0:0.0:0.0	.	1156	Q9UI33	SCNBA_HUMAN	H	1156;1156;1118;1156	ENSP00000307599:R1156H;ENSP00000400945:R1156H;ENSP00000416757:R1118H;ENSP00000408028:R1156H	ENSP00000307599:R1156H	R	-	2	0	SCN11A	38888716	0.860000	0.29831	0.044000	0.18714	0.102000	0.19082	7.729000	0.84864	2.596000	0.87737	0.561000	0.74099	CGT		0.463	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		8	703	0	0	0	1	0	8	703				
ARF3	377	broad.mit.edu	37	12	49334797	49334797	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:49334797C>T	ENST00000256682.4	-	2	416	c.82G>A	c.(82-84)Gca>Aca	p.A28T	ARF3_ENST00000541967.1_5'Flank|AC073610.5_ENST00000537495.1_5'Flank|ARF3_ENST00000447318.2_Missense_Mutation_p.A28T|ARF3_ENST00000541959.1_Missense_Mutation_p.A28T|RP11-302B13.5_ENST00000398092.4_Missense_Mutation_p.A28T	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3	28					GTP catabolic process (GO:0006184)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|skin(1)	4						GTCTTTCCTGCGGCATCCAGG	0.527																																					Pancreas(189;1862 2134 4419 30933 49364)	ENST00000256682.4																			0				endometrium(1)|lung(2)|skin(1)	4						c.(82-84)Gca>Aca		ADP-ribosylation factor 3							251.0	212.0	225.0					12																	49334797		2203	4300	6503	SO:0001583	missense	377				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity	g.chr12:49334797C>T	M74491	CCDS8774.1	12q13.12	2013-01-22			ENSG00000134287	ENSG00000134287		"""ADP-ribosylation factors"""	654	protein-coding gene	gene with protein product	"""small GTP binding protein"""	103190				8661066	Standard	NM_001659		Approved		uc001rsr.2	P61204	OTTHUMG00000168080	ENST00000256682.4:c.82G>A	12.37:g.49334797C>T	ENSP00000256682:p.Ala28Thr					ARF3_ENST00000447318.2_Missense_Mutation_p.A28T|ARF3_ENST00000398092.4_Missense_Mutation_p.A28T|ARF3_ENST00000541959.1_Missense_Mutation_p.A28T	p.A28T	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN			2	416	-			28					A8K6G8|B7ZB63|P16587	Missense_Mutation	SNP	ENST00000256682.4	37	c.82G>A	CCDS8774.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567213	0.86439	.	.	ENSG00000134287	ENST00000398092;ENST00000256682;ENST00000447318;ENST00000541959;ENST00000541236;ENST00000539611;ENST00000545855	T;T;D;T;T;T;T	0.84070	-0.77;-0.77;-1.8;-0.77;-0.77;-0.77;-0.77	4.96	4.96	0.65561	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94437	0.8210	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.75484	0.888;0.986	D	0.96383	0.9283	10	0.87932	D	0	.	17.3435	0.87304	0.0:1.0:0.0:0.0	.	28;28	B7ZB63;P61204	.;ARF3_HUMAN	T	28	ENSP00000438507:A28T;ENSP00000256682:A28T;ENSP00000395370:A28T;ENSP00000438510:A28T;ENSP00000438063:A28T;ENSP00000437374:A28T;ENSP00000446353:A28T	ENSP00000256682:A28T	A	-	1	0	ARF3	47621064	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	6.049000	0.71053	2.476000	0.83614	0.561000	0.74099	GCA		0.527	ARF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258242.2	NM_001659		8	831	0	0	0	1	0	8	831				
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr21:11058168A>T	ENST00000470054.1	-	0	479							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACATCTTTCAGGAGCTTGGT	0.388																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							100.0	79.0	86.0					21																	11058168		692	1591	2283			85319							g.chr21:11058168A>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058168A>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	479	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	396	0	0	0	1	0	8	396				
ZNF354B	117608	broad.mit.edu	37	5	178293259	178293259	+	Silent	SNP	C	C	T	rs530482815		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:178293259C>T	ENST00000322434.3	+	3	274	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	16	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACTGACATTCGAGGACGTGG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		18000	0.0		0.0	False		,,,				2504	0.001					ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(46-48)ttC>ttT		zinc finger protein 354B							133.0	123.0	126.0					5																	178293259		2203	4300	6503	SO:0001819	synonymous_variant	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178293259C>T	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.48C>T	5.37:g.178293259C>T							p.F16F	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	274	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	16			KRAB.		A8K0V2|Q5U5Z4	Silent	SNP	ENST00000322434.3	37	c.48C>T	CCDS4439.1																																																																																				0.557	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		7	306	0	0	0	1	0	7	306				
BDH2	56898	broad.mit.edu	37	4	104000881	104000881	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:104000881A>G	ENST00000296424.4	-	10	836	c.716T>C	c.(715-717)aTt>aCt	p.I239T	SLC9B2_ENST00000339611.4_5'Flank|SLC9B2_ENST00000394785.3_5'Flank|SLC9B2_ENST00000503230.1_5'Flank	NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	239					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		GCCTCCATCAATGATGACAGG	0.438																																						ENST00000296424.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(715-717)aTt>aCt		3-hydroxybutyrate dehydrogenase, type 2							126.0	110.0	116.0					4																	104000881		2203	4300	6503	SO:0001583	missense	56898				fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:104000881A>G	AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	32389	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 15C, member 1"""		"""dehydrogenase/reductase (SDR family) member 6"""	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.716T>C	4.37:g.104000881A>G	ENSP00000296424:p.Ile239Thr						p.I239T	NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)	10	836	-		Hepatocellular(203;0.217)	239					A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Missense_Mutation	SNP	ENST00000296424.4	37	c.716T>C	CCDS3663.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.392016	0.83011	.	.	ENSG00000164039	ENST00000296424	T	0.25414	1.8	5.31	5.31	0.75309	NAD(P)-binding domain (1);	0.232522	0.43579	D	0.000549	T	0.48333	0.1494	M	0.72624	2.21	0.80722	D	1	D	0.61697	0.99	D	0.67900	0.954	T	0.51100	-0.8748	10	0.87932	D	0	.	13.0737	0.59075	1.0:0.0:0.0:0.0	.	239	Q9BUT1	BDH2_HUMAN	T	239	ENSP00000296424:I239T	ENSP00000296424:I239T	I	-	2	0	BDH2	104220330	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.861000	0.87004	2.130000	0.65690	0.477000	0.44152	ATT		0.438	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157159.2	NM_020139		4	263	0	0	0	1	0	4	263				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		9	532	0	0	0	1	0	9	532				
KCNN3	3782	broad.mit.edu	37	1	154841843	154841843	+	Nonsense_Mutation	SNP	C	C	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:154841843C>A	ENST00000271915.4	-	1	913	c.598G>T	c.(598-600)Gag>Tag	p.E200*	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	205					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GTCTCGGCCTCGATGAGGTTC	0.637																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(598-600)Gag>Tag		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							45.0	47.0	46.0					1																	154841843		2203	4300	6503	SO:0001587	stop_gained	3782					integral to membrane	calmodulin binding	g.chr1:154841843C>A	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.598G>T	1.37:g.154841843C>A	ENSP00000271915:p.Glu200*						p.E200*	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	913	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		205					B1ANX0|O43517|Q86VF9|Q8WXG7	Nonsense_Mutation	SNP	ENST00000271915.4	37	c.598G>T	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	C	40	8.086447	0.98646	.	.	ENSG00000143603	ENST00000271915	.	.	.	4.75	4.75	0.60458	.	0.000000	0.44285	D	0.000468	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-19.4109	15.2796	0.73770	0.0:1.0:0.0:0.0	.	.	.	.	X	200	.	ENSP00000271915:E200X	E	-	1	0	KCNN3	153108467	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.750000	0.68712	2.461000	0.83175	0.561000	0.74099	GAG		0.637	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		7	448	1	0	0.00198382	1	0.00201744	7	448				
NRAP	4892	broad.mit.edu	37	10	115374632	115374632	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:115374632T>A	ENST00000359988.3	-	28	3396	c.3152A>T	c.(3151-3153)cAa>cTa	p.Q1051L	NRAP_ENST00000360478.3_Missense_Mutation_p.Q1016L|NRAP_ENST00000369358.4_Missense_Mutation_p.Q1059L|NRAP_ENST00000369360.3_Missense_Mutation_p.Q1024L	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTTTGCTGCTTGGAATGGAAG	0.468																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3175-3177)cAa>cTa		nebulin-related anchoring protein							169.0	148.0	155.0					10																	115374632		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115374632T>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3152A>T	10.37:g.115374632T>A	ENSP00000353078:p.Gln1051Leu					NRAP_ENST00000369360.3_Missense_Mutation_p.Q1024L|NRAP_ENST00000359988.3_Missense_Mutation_p.Q1051L|NRAP_ENST00000360478.3_Missense_Mutation_p.Q1016L	p.Q1059L			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	28	3420	-		Colorectal(252;0.0233)|Breast(234;0.188)	1051						Missense_Mutation	SNP	ENST00000359988.3	37	c.3176A>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.582432	0.65992	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.66	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.53249	1.67	0.42674	D	0.993527	D;D;P	0.89917	1.0;1.0;0.743	D;D;P	0.91635	0.999;0.999;0.798	T	0.54984	-0.8211	10	0.40728	T	0.16	.	11.6035	0.51017	0.0:0.0697:0.0:0.9303	.	1051;1016;1051	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	L	1059;1024;1051;1016	ENSP00000358365:Q1059L;ENSP00000358367:Q1024L;ENSP00000353078:Q1051L;ENSP00000353666:Q1016L	ENSP00000353078:Q1051L	Q	-	2	0	NRAP	115364622	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.562000	0.60816	0.972000	0.38314	0.533000	0.62120	CAA		0.468	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		8	279	0	0	0	1	0	8	279				
UGT2B28	54490	broad.mit.edu	37	4	70146575	70146575	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:70146575T>A	ENST00000335568.5	+	1	359	c.357T>A	c.(355-357)ttT>ttA	p.F119L	UGT2B28_ENST00000511240.1_Missense_Mutation_p.F119L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	119					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						TGTGGGAATTTCATGACATAT	0.303																																						ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(355-357)ttT>ttA		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						69.0	86.0	81.0					4																	70146575		2016	4226	6242	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70146575T>A	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.357T>A	4.37:g.70146575T>A	ENSP00000334276:p.Phe119Leu					UGT2B28_ENST00000511240.1_Missense_Mutation_p.F119L	p.F119L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			1	359	+			119					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.357T>A	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	4.904	0.168064	0.09339	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.60040	0.22;0.22	2.18	0.897	0.19258	.	0.991766	0.08185	N	0.984814	T	0.45657	0.1353	L	0.52206	1.635	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.30909	-0.9962	10	0.27082	T	0.32	.	3.031	0.06107	0.2465:0.0:0.2526:0.5009	.	119;119	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	L	119	ENSP00000334276:F119L;ENSP00000427399:F119L	ENSP00000334276:F119L	F	+	3	2	UGT2B28	70181164	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.503000	0.06383	0.114000	0.18032	-1.436000	0.01078	TTT		0.303	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		6	439	0	0	0	1	0	6	439				
DDX23	9416	broad.mit.edu	37	12	49224974	49224974	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:49224974G>C	ENST00000308025.3	-	16	2269	c.2190C>G	c.(2188-2190)atC>atG	p.I730M		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	730	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						ACACATCTTGGATGTCAATAC	0.468																																						ENST00000308025.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(2188-2190)atC>atG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							165.0	150.0	155.0					12																	49224974		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49224974G>C	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.2190C>G	12.37:g.49224974G>C	ENSP00000310723:p.Ile730Met						p.I730M	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			16	2269	-			730			Helicase C-terminal.		B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.2190C>G	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471899	0.63737	.	.	ENSG00000174243	ENST00000308025	T	0.78816	-1.21	5.75	0.262	0.15597	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87803	0.6269	M	0.90595	3.13	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.87059	0.2152	10	0.87932	D	0	-13.0005	10.1741	0.42929	0.4713:0.0:0.5287:0.0	.	730	Q9BUQ8	DDX23_HUMAN	M	730	ENSP00000310723:I730M	ENSP00000310723:I730M	I	-	3	3	DDX23	47511241	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.010000	0.29898	0.103000	0.17682	0.655000	0.94253	ATC		0.468	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		6	746	0	0	0	1	0	6	746				
CFD	1675	broad.mit.edu	37	19	861750	861750	+	Missense_Mutation	SNP	C	C	T	rs139666945	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:861750C>T	ENST00000327726.6	+	4	646	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	CFD_ENST00000592860.1_Missense_Mutation_p.R144C	NM_001928.2	NP_001919.2	P00746	CFAD_HUMAN	complement factor D (adipsin)	137	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)						Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCTGGCAGCGCGTGGACCG	0.731																																						ENST00000327726.6																			0											c.(409-411)Cgc>Tgc		complement factor D (adipsin)		C	CYS/ARG	6,4322		0,6,2158	15.0	14.0	14.0		409	1.6	0.5	19	dbSNP_134	14	0,8542		0,0,4271	no	missense	CFD	NM_001928.2	180	0,6,6429	TT,TC,CC		0.0,0.1386,0.0466	probably-damaging	137/254	861750	6,12864	2164	4271	6435	SO:0001583	missense	1675				complement activation, alternative pathway|platelet activation|platelet degranulation|proteolysis	platelet alpha granule lumen	serine-type endopeptidase activity	g.chr19:861750C>T	M84526	CCDS12046.1	19p13.3	2014-09-17	2006-02-10	2006-02-10		ENSG00000197766		"""Complement system"""	2771	protein-coding gene	gene with protein product		134350	"""D component of complement (adipsin)"", ""properdin factor D"""	DF, PFD		1374388	Standard	NM_001928		Approved	ADN	uc002lqc.3	P00746		ENST00000327726.6:c.409C>T	19.37:g.861750C>T	ENSP00000332139:p.Arg137Cys					CFD_ENST00000592860.1_Missense_Mutation_p.R144C	p.R137C	NM_001928.2	NP_001919.2	P00746	CFAD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	646	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	137			Peptidase S1.		B4DV76|Q5U5S1|Q86VJ5|Q8N4E0|Q8WZB4	Missense_Mutation	SNP	ENST00000327726.6	37	c.409C>T	CCDS12046.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.316929	0.40996	0.001386	0.0	ENSG00000197766	ENST00000327726	D	0.88896	-2.44	4.06	1.59	0.23543	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.527246	0.13683	U	0.370035	D	0.88966	0.6581	L	0.41492	1.28	0.42835	D	0.994032	D;D	0.89917	1.0;0.999	P;P	0.62089	0.898;0.885	D	0.86253	0.1650	10	0.66056	D	0.02	.	6.682	0.23125	0.277:0.6274:0.0:0.0956	.	144;137	A6XNE2;P00746	.;CFAD_HUMAN	C	137	ENSP00000332139:R137C	ENSP00000332139:R137C	R	+	1	0	CFD	812750	0.070000	0.21116	0.477000	0.27303	0.114000	0.19823	0.194000	0.17135	0.805000	0.34159	0.313000	0.20887	CGC		0.731	CFD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457891.2	NM_001928		6	96	0	0	0	1	0	6	96				
TP53	7157	broad.mit.edu	37	17	7578404	7578404	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:7578404A>C	ENST00000269305.4	-	5	715	c.526T>G	c.(526-528)Tgc>Ggc	p.C176G	TP53_ENST00000420246.2_Missense_Mutation_p.C176G|TP53_ENST00000359597.4_Missense_Mutation_p.C176G|TP53_ENST00000455263.2_Missense_Mutation_p.C176G|TP53_ENST00000445888.2_Missense_Mutation_p.C176G|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.C176G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176S(10)|p.C176R(8)|p.0?(8)|p.C176fs*71(7)|p.C176G(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.C44G(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C83G(1)|p.C176fs*6(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGTGGGGGCAGCGCCTCACA	0.647		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		80	Substitution - Missense(26)|Deletion - Frameshift(25)|Deletion - In frame(13)|Whole gene deletion(8)|Insertion - Frameshift(5)|Complex - deletion inframe(3)	p.C176S(10)|p.C176R(8)|p.0?(8)|p.C176fs*71(7)|p.C176G(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.C44G(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C83G(1)|p.C176fs*6(1)|p.R174fs*3(1)	breast(18)|haematopoietic_and_lymphoid_tissue(13)|oesophagus(10)|upper_aerodigestive_tract(8)|large_intestine(8)|stomach(4)|lung(4)|liver(4)|bone(4)|central_nervous_system(3)|ovary(2)|biliary_tract(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(526-528)Tgc>Ggc	Other conserved DNA damage response genes	tumor protein p53							49.0	49.0	49.0					17																	7578404		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578404A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.526T>G	17.37:g.7578404A>C	ENSP00000269305:p.Cys176Gly	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.C176G|TP53_ENST00000413465.2_Missense_Mutation_p.C176G|TP53_ENST00000445888.2_Missense_Mutation_p.C176G|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.C176G|TP53_ENST00000455263.2_Missense_Mutation_p.C176G	p.C176G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	658	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	176		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.526T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725152	0.89298	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.71674	0.998;0.971;0.983;0.996;0.995;0.977;0.994	D;D;D;D;D;D;D	0.87578	0.998;0.977;0.982;0.998;0.988;0.973;0.996	D	0.96412	0.9305	10	0.87932	D	0	-18.1821	14.037	0.64651	1.0:0.0:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176G;ENSP00000352610:C176G;ENSP00000269305:C176G;ENSP00000398846:C176G;ENSP00000391127:C176G;ENSP00000391478:C176G;ENSP00000425104:C44G;ENSP00000423862:C83G	ENSP00000269305:C176G	C	-	1	0	TP53	7519129	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.287000	0.95975	2.263000	0.75096	0.533000	0.62120	TGC		0.647	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	342	0	0	0	1	0	12	342				
NACA	4666	broad.mit.edu	37	12	57111912	57111912	+	Silent	SNP	G	G	A	rs2926744		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:57111912G>A	ENST00000454682.1	-	3	3683	c.3402C>T	c.(3400-3402)ccC>ccT	p.P1134P	NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1134	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3400-3402)ccC>ccT		nascent polypeptide-associated complex alpha subunit							61.0	59.0	60.0					12																	57111912		1261	2772	4033	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111912G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3402C>T	12.37:g.57111912G>A						NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron	p.P1134P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3683	-			0						Silent	SNP	ENST00000454682.1	37	c.3402C>T																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		6	649	0	0	0	1	0	6	649				
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433																																						ENST00000341068.3																			5	Substitution - Missense(5)	p.T537A(5)	lung(3)|kidney(1)|endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1609-1611)Act>Gct		anaphase promoting complex subunit 1							109.0	106.0	107.0					2																	112608394		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608394T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala						p.T537A	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			14	2381	-			537					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1609A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		5	453	0	0	0	1	0	5	453				
MYO18B	84700	broad.mit.edu	37	22	26422752	26422752	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr22:26422752G>A	ENST00000407587.2	+	43	6984	c.6815G>A	c.(6814-6816)gGc>gAc	p.G2272D	MYO18B_ENST00000335473.7_Missense_Mutation_p.G2271D|MYO18B_ENST00000536101.1_Missense_Mutation_p.G2271D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2271						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCCACGCTGGGCCTAGAGGAC	0.647																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(6811-6813)gGc>gAc		myosin XVIIIB							16.0	19.0	18.0					22																	26422752		1892	4098	5990	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26422752G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6815G>A	22.37:g.26422752G>A	ENSP00000386096:p.Gly2272Asp					MYO18B_ENST00000536101.1_Missense_Mutation_p.G2271D|MYO18B_ENST00000407587.2_Missense_Mutation_p.G2272D	p.G2271D	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			43	7062	+			2271					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.6812G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.01|16.01	2.999971|2.999971	0.54147|0.54147	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.92299	.|-2.99;-2.99;-3.01	4.67|4.67	3.25|3.25	0.37280|0.37280	.|.	.|0.544752	.|0.15001	.|N	.|0.286133	D|D	0.88317|0.88317	0.6404|0.6404	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|P;P;P;P;P	.|0.49783	.|0.835;0.883;0.883;0.9;0.928	.|P;B;B;P;P	.|0.44990	.|0.466;0.274;0.274;0.466;0.463	T|T	0.79137|0.79137	-0.1927|-0.1927	5|10	.|0.37606	.|T	.|0.19	.|.	4.4138|4.4138	0.11447|0.11447	0.1586:0.0:0.6468:0.1947|0.1586:0.0:0.6468:0.1947	.|.	.|1784;2273;2271;2272;2271	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	T|D	221|2271;2271;2272	.|ENSP00000441229:G2271D;ENSP00000334563:G2271D;ENSP00000386096:G2272D	.|ENSP00000334563:G2271D	A|G	+|+	1|2	0|0	MYO18B|MYO18B	24752752|24752752	0.879000|0.879000	0.30193|0.30193	0.986000|0.986000	0.45419|0.45419	0.910000|0.910000	0.53928|0.53928	1.586000|1.586000	0.36611|0.36611	0.602000|0.602000	0.29896|0.29896	0.313000|0.313000	0.20887|0.20887	GCC|GGC		0.647	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		6	49	0	0	0	1	0	6	49				
EXOSC4	54512	broad.mit.edu	37	8	145134931	145134931	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:145134931G>A	ENST00000316052.5	+	2	360	c.257G>A	c.(256-258)cGc>cAc	p.R86H	GPAA1_ENST00000355091.4_5'Flank|GPAA1_ENST00000361036.6_5'Flank|EXOSC4_ENST00000525936.1_Intron|CTD-3065J16.9_ENST00000524499.1_RNA	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	86					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGGTGAGCGCAAGCGACGG	0.622																																						ENST00000316052.5																			0				lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7						c.(256-258)cGc>cAc		exosome component 4							85.0	83.0	84.0					8																	145134931		2203	4300	6503	SO:0001583	missense	54512				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr8:145134931G>A	AF281133	CCDS6414.1	8q24.3	2004-03-26			ENSG00000178896	ENSG00000178896			18189	protein-coding gene	gene with protein product	"""exosome component Rrp41"""	606491				11110791	Standard	NM_019037		Approved	hRrp41p, FLJ20591, Rrp41p, RRP41, RRP41A, Ski6p, SKI6, p12A	uc003zau.3	Q9NPD3	OTTHUMG00000165437	ENST00000316052.5:c.257G>A	8.37:g.145134931G>A	ENSP00000315476:p.Arg86His					EXOSC4_ENST00000525936.1_Intron	p.R86H	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	360	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		86						Missense_Mutation	SNP	ENST00000316052.5	37	c.257G>A	CCDS6414.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351420	0.95830	.	.	ENSG00000178896	ENST00000316052;ENST00000527954	T;T	0.69306	-0.39;-0.39	5.05	5.05	0.67936	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.000000	0.85682	D	0.000000	D	0.84826	0.5558	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88237	0.2907	10	0.87932	D	0	-22.2698	15.8797	0.79195	0.0:0.0:1.0:0.0	.	86	Q9NPD3	EXOS4_HUMAN	H	86;109	ENSP00000315476:R86H;ENSP00000436539:R109H	ENSP00000315476:R86H	R	+	2	0	EXOSC4	145206919	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.214000	0.95140	2.345000	0.79718	0.561000	0.74099	CGC		0.622	EXOSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384065.1	NM_019037		6	638	0	0	0	1	0	6	638				
GPRASP2	114928	broad.mit.edu	37	X	101972217	101972217	+	Missense_Mutation	SNP	C	C	T	rs186673137		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:101972217C>T	ENST00000535209.1	+	4	3251	c.2420C>T	c.(2419-2421)cCg>cTg	p.P807L	GPRASP2_ENST00000543253.1_Missense_Mutation_p.P807L|GPRASP2_ENST00000332262.5_Missense_Mutation_p.P807L			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	807						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGTCTTGAGCCGCTTATTTCT	0.318													.|||	1	0.000264901	0.0	0.0014	3775	,	,		14251	0.0		0.0	False		,,,				2504	0.0					ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(2419-2421)cCg>cTg		G protein-coupled receptor associated sorting protein 2							122.0	130.0	127.0					X																	101972217		2203	4296	6499	SO:0001583	missense	114928							g.chrX:101972217C>T	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.2420C>T	X.37:g.101972217C>T	ENSP00000437394:p.Pro807Leu					GPRASP2_ENST00000535209.1_Missense_Mutation_p.P807L|GPRASP2_ENST00000332262.5_Missense_Mutation_p.P807L	p.P807L	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	3339	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.2420C>T	CCDS14501.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	9.349	1.065104	0.20067	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.28255	1.62;1.62;1.62	4.04	3.16	0.36331	Armadillo-type fold (1);	0.000000	0.41712	D	0.000830	T	0.48677	0.1513	M	0.65975	2.015	0.18873	N	0.999986	D	0.89917	1.0	D	0.83275	0.996	T	0.27054	-1.0085	10	0.72032	D	0.01	-5.9426	8.0819	0.30750	0.2402:0.7598:0.0:0.0	.	807	Q96D09	GASP2_HUMAN	L	807	ENSP00000437872:P807L;ENSP00000437394:P807L;ENSP00000339057:P807L	ENSP00000339057:P807L	P	+	2	0	GPRASP2	101858873	0.860000	0.29831	0.078000	0.20375	0.454000	0.32378	2.912000	0.48782	1.042000	0.40150	0.513000	0.50165	CCG		0.318	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		23	816	0	0	0	1	0	23	816				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2725-2727)aCt>aTt		OTU domain containing 4							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile					OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron	p.T909I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2863	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		6	739	0	0	0	1	0	6	739				
INSRR	3645	broad.mit.edu	37	1	156816395	156816395	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:156816395G>A	ENST00000368195.3	-	8	2122	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	576	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGATGGCCCGCACAAACACT	0.617																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1726-1728)Cgg>Tgg		insulin receptor-related receptor							130.0	98.0	109.0					1																	156816395		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156816395G>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1726C>T	1.37:g.156816395G>A	ENSP00000357178:p.Arg576Trp					NTRK1_ENST00000392302.2_Intron	p.R576W	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			8	2122	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		576			Fibronectin type-III 1.		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.1726C>T	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966526	0.74131	.	.	ENSG00000027644	ENST00000368195	T	0.71817	-0.6	5.21	4.29	0.51040	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.41938	D	0.000781	T	0.78509	0.4294	.	.	.	0.47441	D	0.999429	D	0.89917	1.0	D	0.69654	0.965	T	0.82470	-0.0441	9	0.87932	D	0	.	13.0421	0.58906	0.0:0.0:0.8379:0.1621	.	576	P14616	INSRR_HUMAN	W	576	ENSP00000357178:R576W	ENSP00000357178:R576W	R	-	1	2	INSRR	155083019	0.996000	0.38824	1.000000	0.80357	0.979000	0.70002	3.485000	0.53208	1.411000	0.46957	-0.152000	0.13540	CGG		0.617	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		5	324	0	0	0	1	0	5	324				
ACVR2A	92	broad.mit.edu	37	2	148657443	148657443	+	Nonsense_Mutation	SNP	C	C	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:148657443C>A	ENST00000241416.7	+	4	1140	c.504C>A	c.(502-504)taC>taA	p.Y168*	ACVR2A_ENST00000404590.1_Nonsense_Mutation_p.Y168*|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000535787.1_Nonsense_Mutation_p.Y60*	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	168					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AGATGGCCTACCCTCCTGTAC	0.388																																						ENST00000241416.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(502-504)taC>taA		activin A receptor, type IIA							198.0	179.0	186.0					2																	148657443		2203	4300	6503	SO:0001587	stop_gained	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148657443C>A		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.504C>A	2.37:g.148657443C>A	ENSP00000241416:p.Tyr168*					ACVR2A_ENST00000404590.1_Nonsense_Mutation_p.Y168*|ACVR2A_ENST00000535787.1_Nonsense_Mutation_p.Y60*|AC009480.3_ENST00000402410.2_RNA	p.Y168*	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	4	1140	+			168					B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Nonsense_Mutation	SNP	ENST00000241416.7	37	c.504C>A	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	C	39	7.653516	0.98412	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	.	.	.	5.22	0.915	0.19366	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6266	0.33892	0.0:0.4945:0.0:0.5055	.	.	.	.	X	168;60;168	.	ENSP00000241416:Y168X	Y	+	3	2	ACVR2A	148373913	0.989000	0.36119	1.000000	0.80357	0.991000	0.79684	0.268000	0.18571	0.174000	0.19809	0.585000	0.79938	TAC		0.388	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		20	526	1	0	2.37509e-13	1	2.62683e-13	20	526				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		7	509	0	0	0	1	0	7	509				
TGOLN2	10618	broad.mit.edu	37	2	85554535	85554535	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:85554535C>T	ENST00000409232.3	-	2	381	c.320G>A	c.(319-321)gGc>gAc	p.G107D	TGOLN2_ENST00000377386.3_Missense_Mutation_p.G107D|TGOLN2_ENST00000444342.2_Missense_Mutation_p.G107D|TGOLN2_ENST00000398263.2_Missense_Mutation_p.G107D|TGOLN2_ENST00000409015.1_Missense_Mutation_p.G107D|TGOLN2_ENST00000282120.2_Intron			O43493	TGON2_HUMAN	trans-golgi network protein 2	107	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											GCTAGTGCTGCCTTTTTGGGT	0.567																																						ENST00000377386.3																			0											c.(319-321)gGc>gAc		trans-golgi network protein 2							391.0	389.0	389.0					2																	85554535		1992	4160	6152	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554535C>T	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.320G>A	2.37:g.85554535C>T	ENSP00000386443:p.Gly107Asp					TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409232.3_Missense_Mutation_p.G107D|TGOLN2_ENST00000444342.2_Missense_Mutation_p.G107D|TGOLN2_ENST00000409015.1_Missense_Mutation_p.G107D|TGOLN2_ENST00000398263.2_Missense_Mutation_p.G107D	p.G107D			O43493	TGON2_HUMAN			2	782	-			107			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.320G>A	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	T	0.740	-0.776681	0.02929	.	.	ENSG00000152291	ENST00000377386;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T	0.11495	2.77;2.78;2.91;2.77;2.79	3.07	-6.13	0.02118	.	.	.	.	.	T	0.01592	0.0051	N	0.00368	-1.59	0.09310	N	0.999998	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.26710	-1.0095	9	0.10377	T	0.69	.	0.8965	0.01265	0.1946:0.284:0.2749:0.2465	.	107;107;107;107	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	D	107	ENSP00000366603:G107D;ENSP00000381312:G107D;ENSP00000386443:G107D;ENSP00000387035:G107D;ENSP00000391190:G107D	ENSP00000366603:G107D	G	-	2	0	TGOLN2	85408046	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.321000	0.02697	-3.211000	0.00214	-0.766000	0.03442	GGC		0.567	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		13	2625	0	0	0	1	0	13	2625				
C19orf44	84167	broad.mit.edu	37	19	16634068	16634068	+	IGR	SNP	C	C	T	rs371011161		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:16634068C>T	ENST00000221671.3	+	0	3427				CHERP_ENST00000198939.6_Missense_Mutation_p.R603H|CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000546361.2_Missense_Mutation_p.R592H|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						ATGAGGCATGCGGTGGCCAGG	0.652																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1774-1776)cGc>cAc		calcium homeostasis endoplasmic reticulum protein		C	HIS/ARG	0,4190		0,0,2095	48.0	60.0	56.0		1775	5.1	1.0	19		56	1,8461		0,1,4230	no	missense	CHERP	NM_006387.5	29	0,1,6325	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	592/917	16634068	1,12651	2095	4231	6326	SO:0001628	intergenic_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16634068C>T	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5			19.37:g.16634068C>T						CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000198939.6_Missense_Mutation_p.R603H|CTD-3222D19.2_ENST00000409035.1_Intron	p.R592H	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			11	1926	-			592			Pro-rich.		Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.1775G>A	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035077	0.93575	0.0	1.18E-4	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.26067	1.76;1.76	5.09	5.09	0.68999	.	.	.	.	.	T	0.45716	0.1356	L	0.47716	1.5	0.53688	D	0.999971	D	0.76494	0.999	D	0.76071	0.987	T	0.38520	-0.9657	9	0.59425	D	0.04	-24.2726	17.4823	0.87675	0.0:1.0:0.0:0.0	.	592	Q8IWX8	CHERP_HUMAN	H	592;603	ENSP00000439856:R592H;ENSP00000198939:R603H	ENSP00000198939:R603H	R	-	2	0	CHERP	16495068	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.136000	0.77285	2.377000	0.81083	0.561000	0.74099	CGC		0.652	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		6	589	0	0	0	1	0	6	589				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		5	96	0	0	0	1	0	5	96				
SEZ6L	23544	broad.mit.edu	37	22	26693012	26693012	+	Silent	SNP	C	C	T	rs371203903		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr22:26693012C>T	ENST00000248933.6	+	4	1223	c.1128C>T	c.(1126-1128)gaC>gaT	p.D376D	SEZ6L_ENST00000403121.1_Silent_p.D149D|SEZ6L_ENST00000402979.1_Silent_p.D149D|SEZ6L_ENST00000343706.4_Silent_p.D376D|SEZ6L_ENST00000404234.3_Silent_p.D376D|SEZ6L_ENST00000529632.2_Silent_p.D376D|SEZ6L_ENST00000360929.3_Silent_p.D376D			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	376	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.D376D(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCTTCCAGGACGACGGCCTTG	0.577																																						ENST00000529632.2																			2	Substitution - coding silent(2)	p.D376D(2)	large_intestine(1)|endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(1126-1128)gaC>gaT		seizure related 6 homolog (mouse)-like		C	,,,,,	0,4406		0,0,2203	49.0	43.0	45.0		1128,1128,1128,1128,1128,1128	-10.5	0.0	22		45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	376/1024,376/1014,376/1012,376/950,376/949,376/1025	26693012	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26693012C>T	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1128C>T	22.37:g.26693012C>T						SEZ6L_ENST00000404234.3_Silent_p.D376D|SEZ6L_ENST00000403121.1_Silent_p.D149D|SEZ6L_ENST00000343706.4_Silent_p.D376D|SEZ6L_ENST00000360929.3_Silent_p.D376D|SEZ6L_ENST00000402979.1_Silent_p.D149D|SEZ6L_ENST00000248933.6_Silent_p.D376D	p.D376D	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			4	1324	+			376			CUB 1.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	c.1128C>T	CCDS13833.1																																																																																				0.577	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			5	220	0	0	0	1	0	5	220				
LRRC37BP1	147172	broad.mit.edu	37	17	28961033	28961033	+	RNA	SNP	T	T	G	rs397833613		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:28961033T>G	ENST00000417404.1	+	0	1291									leucine rich repeat containing 37B pseudogene 1																		AGTTCCAGGATATGACTATAA	0.264																																						ENST00000417404.1																			0																																																			0							g.chr17:28961033T>G	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28961033T>G						LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA								0	1291	+									RNA	SNP	ENST00000417404.1	37																																																																																						0.264	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		4	159	0	0	0	1	0	4	159				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		7	1107	0	0	0	1	0	7	1107				
RRH	10692	broad.mit.edu	37	4	110756591	110756591	+	Nonsense_Mutation	SNP	C	C	T	rs568068949	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:110756591C>T	ENST00000317735.4	+	3	401	c.367C>T	c.(367-369)Cga>Tga	p.R123*		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	123					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GGCTGTGGACCGATACCTGAC	0.393													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15407	0.0		0.0	False		,,,				2504	0.0					ENST00000317735.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12						c.(367-369)Cga>Tga		retinal pigment epithelium-derived rhodopsin homolog							155.0	150.0	151.0					4																	110756591		2203	4300	6503	SO:0001587	stop_gained	10692				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr4:110756591C>T	AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.367C>T	4.37:g.110756591C>T	ENSP00000314992:p.Arg123*						p.R123*	NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00109)	3	401	+		Hepatocellular(203;0.217)	123					A1A4V2|Q7RTS4	Nonsense_Mutation	SNP	ENST00000317735.4	37	c.367C>T	CCDS3687.1	.	.	.	.	.	.	.	.	.	.	C	34	5.341306	0.95783	.	.	ENSG00000180245	ENST00000317735	.	.	.	5.88	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1711	0.81817	0.1343:0.8657:0.0:0.0	.	.	.	.	X	123	.	ENSP00000314992:R123X	R	+	1	2	RRH	110976040	0.947000	0.32204	0.992000	0.48379	0.597000	0.36814	1.539000	0.36104	1.419000	0.47118	0.655000	0.94253	CGA		0.393	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1	NM_006583		26	309	0	0	0	1	0	26	309				
PRDM7	11105	broad.mit.edu	37	16	90161168	90161168	+	5'Flank	SNP	T	T	G	rs8055740|rs371109645	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:90161168T>G	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000564451.1_RNA|TUBB8P7_ENST00000567960.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCTCCTGTCCTCCGAGTCGAG	0.622													.|||	781	0.15595	0.2186	0.1527	5008	,	,		2545	0.003		0.2684	False		,,,				2504	0.1155					ENST00000567960.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:90161168T>G	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90161168T>G	Exception_encountered					TUBB8P7_ENST00000564451.1_RNA								0	277	+								A4Q9G8|Q08EM4|Q9NQW4	RNA	SNP	ENST00000569206.1	37																																																																																						0.622	PRDM7-009	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000420855.1			12	23	0	0	0	1	0	12	23				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		13	340	0	0	0	1	0	13	340				
KRTAP10-5	386680	broad.mit.edu	37	21	45999774	45999774	+	Missense_Mutation	SNP	T	T	C	rs200900562	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr21:45999774T>C	ENST00000400372.1	-	1	707	c.682A>G	c.(682-684)Ata>Gta	p.I228V	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	228	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.I228V(1)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GGCCTGCATATGGGGCGGCAG	0.682													.|||	3	0.000599042	0.0	0.0	5008	,	,		18832	0.0		0.001	False		,,,				2504	0.002					ENST00000400372.1																			1	Substitution - Missense(1)	p.I228V(1)	lung(1)	endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(682-684)Ata>Gta		keratin associated protein 10-5							65.0	76.0	72.0					21																	45999774		2203	4300	6503	SO:0001583	missense	386680					keratin filament		g.chr21:45999774T>C	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.682A>G	21.37:g.45999774T>C	ENSP00000383223:p.Ile228Val					TSPEAR_ENST00000323084.4_Intron	p.I228V	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN			1	707	-			228			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	c.682A>G	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.194699	0.00299	.	.	ENSG00000241123	ENST00000400372	T	0.00640	6.03	3.66	-0.867	0.10655	.	.	.	.	.	T	0.00144	0.0004	N	0.00034	-2.555	0.21064	N	0.999794	B	0.20550	0.046	B	0.25405	0.06	T	0.45396	-0.9264	9	0.02654	T	1	.	3.5285	0.07768	0.1652:0.5698:0.1611:0.1039	.	228	P60370	KR105_HUMAN	V	228	ENSP00000383223:I228V	ENSP00000383223:I228V	I	-	1	0	KRTAP10-5	44824202	.	.	0.972000	0.41901	0.048000	0.14542	.	.	-0.051000	0.13334	-0.835000	0.03068	ATA		0.682	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			6	634	0	0	0	1	0	6	634				
HIST1H3I	8354	broad.mit.edu	37	6	27839741	27839741	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:27839741A>C	ENST00000328488.2	-	1	358	c.353T>G	c.(352-354)gTc>gGc	p.V118G		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	118					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CATAATAGTGACGCGTTTGGC	0.567																																						ENST00000328488.2																			0				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(352-354)gTc>gGc		histone cluster 1, H3i							129.0	141.0	137.0					6																	27839741		2203	4300	6503	SO:0001583	missense	8354				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27839741A>C	X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"""Histones / Replication-dependent"""	4771	protein-coding gene	gene with protein product		602814	"""H3 histone family, member F"", ""histone 1, H3i"""	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.353T>G	6.37:g.27839741A>C	ENSP00000329554:p.Val118Gly						p.V118G	NM_003533.2	NP_003524.1	P68431	H31_HUMAN			1	358	-			118					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000328488.2	37	c.353T>G	CCDS4636.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.744292	0.49151	.	.	ENSG00000182572	ENST00000328488	T	0.50277	0.75	4.12	4.12	0.48240	.	.	.	.	.	T	0.52885	0.1762	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59910	-0.7365	6	0.87932	D	0	.	13.3331	0.60500	1.0:0.0:0.0:0.0	.	.	.	.	G	118	ENSP00000329554:V118G	ENSP00000329554:V118G	V	-	2	0	HIST1H3I	27947720	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	8.793000	0.91862	2.086000	0.62901	0.528000	0.53228	GTC		0.567	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1	NM_003533		47	789	0	0	0	1	0	47	789				
SMTN	6525	broad.mit.edu	37	22	31487093	31487093	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr22:31487093G>A	ENST00000347557.2	+	10	1302	c.1084G>A	c.(1084-1086)Gca>Aca	p.A362T	SMTN_ENST00000358743.1_Missense_Mutation_p.A362T|SMTN_ENST00000404574.1_5'Flank|SMTN_ENST00000333137.7_Missense_Mutation_p.A362T	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	362					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCTGACCCCCGCAAGGCTCCT	0.647																																						ENST00000333137.7																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.(1084-1086)Gca>Aca		smoothelin							65.0	68.0	67.0					22																	31487093		2203	4300	6503	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31487093G>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1084G>A	22.37:g.31487093G>A	ENSP00000328635:p.Ala362Thr					SMTN_ENST00000358743.1_Missense_Mutation_p.A362T|SMTN_ENST00000347557.2_Missense_Mutation_p.A362T	p.A362T	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN			10	1302	+			362					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.1084G>A	CCDS13886.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.013|0.013	-1.609457|-1.609457	0.00842|0.00842	.|.	.|.	ENSG00000183963|ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000404496|ENST00000329852	T;T;T|.	0.66280|.	0.22;-0.2;-0.2|.	5.05|5.05	-5.64|-5.64	0.02466|0.02466	.|.	1.909230|.	0.03177|.	N|.	0.171509|.	T|T	0.23572|0.23572	0.0570|0.0570	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999994|0.999994	B;B;B;B;B;B|.	0.09022|.	0.002;0.001;0.001;0.001;0.001;0.001|.	B;B;B;B;B;B|.	0.04013|.	0.001;0.0;0.001;0.001;0.001;0.001|.	T|T	0.30090|0.30090	-0.9990|-0.9990	10|6	0.10111|0.36615	T|T	0.7|0.2	0.8384|0.8384	13.1595|13.1595	0.59537|0.59537	0.7419:0.0:0.2581:0.0|0.7419:0.0:0.2581:0.0	.|.	418;416;354;362;362;362|.	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5|.	.;.;.;.;SMTN_HUMAN;.|.	T|H	362;362;362;354|361	ENSP00000351593:A362T;ENSP00000328635:A362T;ENSP00000329532:A362T|.	ENSP00000329532:A362T|ENSP00000329393:R361H	A|R	+|+	1|2	0|0	SMTN|SMTN	29817093|29817093	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.063000|0.063000	0.16089|0.16089	-0.828000|-0.828000	0.04419|0.04419	-1.197000|-1.197000	0.02673|0.02673	-0.658000|-0.658000	0.03865|0.03865	GCA|CGC		0.647	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		7	571	0	0	0	1	0	7	571				
UBB	7314	broad.mit.edu	37	17	16285788	16285788	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:16285788C>T	ENST00000395837.1	+	2	748	c.567C>T	c.(565-567)ccC>ccT	p.P189P	UBB_ENST00000302182.3_Silent_p.P189P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000535788.1_Silent_p.P113P|UBB_ENST00000578649.1_3'UTR	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	189	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.P189P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCCCCCGACCAGC	0.552																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			1	Substitution - coding silent(1)	p.P189P(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(565-567)ccC>ccT		ubiquitin B							55.0	59.0	58.0					17																	16285788		2203	4297	6500	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285788C>T		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.567C>T	17.37:g.16285788C>T						UBB_ENST00000395839.1_Silent_p.P189P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Silent_p.P113P|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000395837.1_Silent_p.P189P	p.P189P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	959	+			189			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.567C>T	CCDS11177.1																																																																																				0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		5	340	0	0	0	1	0	5	340				
L1CAM	3897	broad.mit.edu	37	X	153134383	153134383	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:153134383G>A	ENST00000370060.1	-	12	1481	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	431	Ig-like C2-type 5.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGATTGTCCGCAGTCAGGAT	0.617																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1291-1293)gCg>gTg		L1 cell adhesion molecule							128.0	97.0	107.0					X																	153134383		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153134383G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1292C>T	X.37:g.153134383G>A	ENSP00000359077:p.Ala431Val					L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V	p.A431V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			12	1481	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		431			Ig-like C2-type 5.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1292C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	7.720	0.696948	0.15106	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.60424	0.19;0.2;0.19;0.21;0.23;0.23;0.19	5.53	0.212	0.15240	Immunoglobulin-like (1);	1.465370	0.04158	N	0.322492	T	0.44540	0.1298	L	0.29908	0.895	0.09310	N	1	B;B;B	0.20164	0.034;0.017;0.042	B;B;B	0.16722	0.009;0.006;0.016	T	0.34477	-0.9827	10	0.62326	D	0.03	.	4.1815	0.10378	0.0831:0.2626:0.4422:0.212	.	426;431;431	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	431;433;431;433;426;426;431	ENSP00000359077:A431V;ENSP00000438430:A433V;ENSP00000359074:A431V;ENSP00000439645:A433V;ENSP00000354712:A426V;ENSP00000359072:A426V;ENSP00000355380:A431V	ENSP00000355380:A431V	A	-	2	0	L1CAM	152787577	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.054000	0.14205	-0.087000	0.12528	-0.347000	0.07816	GCG		0.617	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		6	494	0	0	0	1	0	6	494				
HMCN1	83872	broad.mit.edu	37	1	186024700	186024700	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:186024700C>T	ENST00000271588.4	+	45	7267	c.7038C>T	c.(7036-7038)caC>caT	p.H2346H	HMCN1_ENST00000367492.2_Silent_p.H2346H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2346	Ig-like C2-type 21.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGAAGGTCACATCCTTCAGC	0.453																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(7036-7038)caC>caT		hemicentin 1							151.0	129.0	137.0					1																	186024700		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186024700C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7038C>T	1.37:g.186024700C>T						HMCN1_ENST00000367492.2_Silent_p.H2346H	p.H2346H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			45	7267	+			2346			Ig-like C2-type 21.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.7038C>T	CCDS30956.1																																																																																				0.453	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		20	392	0	0	0	1	0	20	392				
KCNJ4	3761	broad.mit.edu	37	22	38824115	38824115	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr22:38824115C>T	ENST00000303592.3	-	2	281	c.23G>A	c.(22-24)gGc>gAc	p.G8D	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	8					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GTGGGCCTGGCCGTTGCGGCT	0.657																																						ENST00000303592.3																			0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(22-24)gGc>gAc		potassium inwardly-rectifying channel, subfamily J, member 4							189.0	172.0	178.0					22																	38824115		2203	4299	6502	SO:0001583	missense	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38824115C>T	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.23G>A	22.37:g.38824115C>T	ENSP00000306497:p.Gly8Asp						p.G8D	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN			2	281	-	Melanoma(58;0.0286)		8					Q14D44	Missense_Mutation	SNP	ENST00000303592.3	37	c.23G>A	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251905	0.59212	.	.	ENSG00000168135	ENST00000303592	D	0.89415	-2.51	4.4	4.4	0.53042	.	0.157281	0.22830	U	0.055117	D	0.92580	0.7643	M	0.76838	2.35	0.53005	D	0.999963	D	0.63880	0.993	P	0.54401	0.751	D	0.93281	0.6660	10	0.52906	T	0.07	.	17.4411	0.87565	0.0:1.0:0.0:0.0	.	8	P48050	IRK4_HUMAN	D	8	ENSP00000306497:G8D	ENSP00000306497:G8D	G	-	2	0	KCNJ4	37154061	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.571000	0.82399	2.182000	0.69389	0.555000	0.69702	GGC		0.657	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		8	1532	0	0	0	1	0	8	1532				
ZNF277	11179	broad.mit.edu	37	7	111926929	111926929	+	Splice_Site	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:111926929C>T	ENST00000361822.3	+	2	222	c.93C>T	c.(91-93)gaC>gaT	p.D31D	ZNF277_ENST00000450657.1_Splice_Site_p.D31D|ZNF277_ENST00000421043.1_Splice_Site_p.D31D|RN7SKP187_ENST00000365536.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	31					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						CTATTCCAGACAGTAAGGATT	0.408																																						ENST00000421043.1																			0				breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.e2-1		zinc finger protein 277							36.0	33.0	34.0					7																	111926929		2203	4300	6503	SO:0001630	splice_region_variant	11179					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:111926929C>T	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.92-1C>T	7.37:g.111926929C>T						ZNF277_ENST00000361822.3_Splice_Site_p.D31_splice|ZNF277_ENST00000450657.1_Splice_Site_p.D31_splice	p.D31_splice			Q9NRM2	ZN277_HUMAN			2	113	+			31					Q75MZ2|Q75MZ3|Q8WY14	Splice_Site	SNP	ENST00000361822.3	37	c.91_splice	CCDS5755.2																																																																																				0.408	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994	Silent	4	108	0	0	0	1	0	4	108				
PLD5	200150	broad.mit.edu	37	1	242451663	242451663	+	Splice_Site	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:242451663C>T	ENST00000536534.2	-	3	737		c.e3+1		PLD5_ENST00000442594.2_Splice_Site|PLD5_ENST00000427495.1_Splice_Site			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5							integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			ATGTAGCTTACCTGACATGCT	0.413																																						ENST00000442594.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.e4+1		phospholipase D family, member 5							164.0	142.0	150.0					1																	242451663		2203	4300	6503	SO:0001630	splice_region_variant	200150					integral to membrane	catalytic activity	g.chr1:242451663C>T	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.495+1G>A	1.37:g.242451663C>T						PLD5_ENST00000536534.1_Splice_Site|PLD5_ENST00000427495.1_Splice_Site		NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		4	729	-	Melanoma(84;0.242)							A1KXV0|B7Z324|Q494U9|Q8NB22	Splice_Site	SNP	ENST00000536534.2	37		CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307958	0.60305	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534;ENST00000459864	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9007	0.63802	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLD5	240518286	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.399000	0.66314	2.134000	0.65973	0.591000	0.81541	.		0.413	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666	Intron	23	459	0	0	0	1	0	23	459				
CACNG1	786	broad.mit.edu	37	17	65051326	65051326	+	Nonsense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:65051326C>T	ENST00000226021.3	+	3	483	c.412C>T	c.(412-414)Cga>Tga	p.R138*		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	138					muscle contraction (GO:0006936)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transport (GO:0006810)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Diltiazem(DB00343)|Fluspirilene(DB04842)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTATCTGCTGCGACCCGCGTC	0.637																																						ENST00000226021.3																			0				breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8						c.(412-414)Cga>Tga		calcium channel, voltage-dependent, gamma subunit 1	Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)						108.0	85.0	93.0					17																	65051326		2203	4300	6503	SO:0001587	stop_gained	786				muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr17:65051326C>T	L07738	CCDS11668.1	17q24	2008-05-02				ENSG00000108878		"""Calcium channel subunits"""	1405	protein-coding gene	gene with protein product		114209		CACNLG		8395940	Standard	NM_000727		Approved		uc002jfu.3	Q06432		ENST00000226021.3:c.412C>T	17.37:g.65051326C>T	ENSP00000226021:p.Arg138*						p.R138*	NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN			3	483	+	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)		138					B2R9N3|Q14D59	Nonsense_Mutation	SNP	ENST00000226021.3	37	c.412C>T	CCDS11668.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459665	0.43736	.	.	ENSG00000108878	ENST00000226021	.	.	.	5.14	0.225	0.15325	.	0.072524	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	14.2269	0.65866	0.5757:0.4243:0.0:0.0	.	.	.	.	X	138	.	ENSP00000226021:R138X	R	+	1	2	CACNG1	62481788	1.000000	0.71417	0.992000	0.48379	0.137000	0.21094	2.256000	0.43231	-0.214000	0.10078	0.462000	0.41574	CGA		0.637	CACNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447039.1			6	309	0	0	0	1	0	6	309				
MYT1	4661	broad.mit.edu	37	20	62839350	62839350	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr20:62839350G>A	ENST00000328439.1	+	7	1165	c.801G>A	c.(799-801)gaG>gaA	p.E267E	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Silent_p.E267E	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaggaagaggagg	0.577																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(799-801)gaG>gaA		myelin transcription factor 1							19.0	19.0	19.0					20																	62839350		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839350G>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.801G>A	20.37:g.62839350G>A						MYT1_ENST00000328439.1_Silent_p.E267E|MYT1_ENST00000360149.4_Intron	p.E267E			Q01538	MYT1_HUMAN			7	1165	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		267			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.801G>A	CCDS13558.1																																																																																				0.577	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		4	80	0	0	0	1	0	4	80				
RBM6	10180	broad.mit.edu	37	3	50095912	50095912	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:50095912A>G	ENST00000266022.4	+	10	2306	c.2047A>G	c.(2047-2049)Act>Gct	p.T683A	RBM6_ENST00000442092.1_Missense_Mutation_p.T161A|RBM6_ENST00000422955.1_Missense_Mutation_p.T161A|RBM6_ENST00000539992.1_Missense_Mutation_p.T25A|RBM6_ENST00000443081.1_Missense_Mutation_p.T551A|RBM6_ENST00000441115.1_3'UTR	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	683					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TGTCCGCCTTACTACTGCCAA	0.498																																						ENST00000443081.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(1651-1653)Act>Gct		RNA binding motif protein 6							193.0	181.0	185.0					3																	50095912		2203	4300	6503	SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50095912A>G	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.2047A>G	3.37:g.50095912A>G	ENSP00000266022:p.Thr683Ala					RBM6_ENST00000266022.4_Missense_Mutation_p.T683A|RBM6_ENST00000539992.1_Missense_Mutation_p.T25A|RBM6_ENST00000422955.1_Missense_Mutation_p.T161A|RBM6_ENST00000442092.1_Missense_Mutation_p.T161A|RBM6_ENST00000441115.1_3'UTR	p.T551A			P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	10	2570	+			683					O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	c.1651A>G	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.420772	0.42918	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955	T;T;T;T;T	0.40476	1.27;1.27;1.27;1.03;1.27	5.71	4.51	0.55191	Nucleotide-binding, alpha-beta plait (1);	0.465551	0.23487	N	0.047660	T	0.16938	0.0407	N	0.03608	-0.345	0.22199	N	0.9993	B;B	0.26935	0.139;0.164	B;B	0.28465	0.042;0.09	T	0.12889	-1.0530	9	.	.	.	-3.4384	4.6373	0.12530	0.625:0.0:0.0942:0.2808	.	551;683	E9PGM9;P78332	.;RBM6_HUMAN	A	161;683;551;25;161	ENSP00000393530:T161A;ENSP00000266022:T683A;ENSP00000396466:T551A;ENSP00000443165:T25A;ENSP00000392939:T161A	.	T	+	1	0	RBM6	50070916	0.920000	0.31207	0.993000	0.49108	0.997000	0.91878	2.437000	0.44828	2.189000	0.69895	0.529000	0.55759	ACT		0.498	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		48	610	0	0	0	1	0	48	610				
TPO	7173	broad.mit.edu	37	2	1480921	1480921	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:1480921G>A	ENST00000345913.4	+	8	974	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.A295T|TPO_ENST00000382198.1_Intron|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.A295T|TPO_ENST00000329066.4_Missense_Mutation_p.A295T|TPO_ENST00000382201.3_Missense_Mutation_p.A295T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	295					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCTTCGGCCGCCTGCGGCAC	0.706																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(883-885)Gcc>Acc		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						12.0	14.0	13.0					2																	1480921		2192	4275	6467	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1480921G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.883G>A	2.37:g.1480921G>A	ENSP00000318820:p.Ala295Thr					TPO_ENST00000382201.3_Missense_Mutation_p.A295T|TPO_ENST00000382198.1_Intron|TPO_ENST00000349624.3_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.A295T|TPO_ENST00000337415.3_Missense_Mutation_p.A295T|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.A295T	p.A295T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	8	974	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	295					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.883G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521755	0.44866	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	4.99	4.11	0.48088	.	0.223965	0.45606	D	0.000357	T	0.68696	0.3029	M	0.62154	1.92	0.80722	D	1	P;P;P	0.52692	0.955;0.885;0.906	P;B;P	0.47891	0.543;0.311;0.56	T	0.70174	-0.4944	10	0.45353	T	0.12	-20.3944	13.6977	0.62589	0.0756:0.0:0.9244:0.0	.	295;295;295	P07202-4;P07202-2;P07202	.;.;PERT_HUMAN	T	295;295;295;295;295;224	ENSP00000337263:A295T;ENSP00000318820:A295T;ENSP00000263886:A295T;ENSP00000329869:A295T;ENSP00000371636:A295T;ENSP00000405788:A224T	ENSP00000329869:A295T	A	+	1	0	TPO	1459928	0.326000	0.24669	0.607000	0.28956	0.013000	0.08279	3.117000	0.50407	1.089000	0.41292	0.460000	0.39030	GCC		0.706	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		10	103	0	0	0	1	0	10	103				
UGT2B28	54490	broad.mit.edu	37	4	70146576	70146576	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:70146576C>T	ENST00000335568.5	+	1	360	c.358C>T	c.(358-360)Cat>Tat	p.H120Y	UGT2B28_ENST00000511240.1_Missense_Mutation_p.H120Y	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	120					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						GTGGGAATTTCATGACATATT	0.303																																						ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(358-360)Cat>Tat		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						69.0	86.0	80.0					4																	70146576		2010	4223	6233	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70146576C>T	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.358C>T	4.37:g.70146576C>T	ENSP00000334276:p.His120Tyr					UGT2B28_ENST00000511240.1_Missense_Mutation_p.H120Y	p.H120Y	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			1	360	+			120					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.358C>T	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	0.003	-2.541551	0.00142	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.60920	0.15;0.15	2.18	-1.25	0.09405	.	15.001300	0.02204	N	0.062507	T	0.31796	0.0808	N	0.12502	0.225	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38779	-0.9645	10	0.02654	T	1	.	1.664	0.02798	0.161:0.1153:0.1648:0.5589	.	120;120	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	Y	120	ENSP00000334276:H120Y;ENSP00000427399:H120Y	ENSP00000334276:H120Y	H	+	1	0	UGT2B28	70181165	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.102000	0.03332	-2.976000	0.00284	-4.988000	0.00002	CAT		0.303	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		6	441	0	0	0	1	0	6	441				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			5	336	1	0	8.12818e-05	1	8.51862e-05	5	336				
ST18	9705	broad.mit.edu	37	8	53028835	53028835	+	Splice_Site	SNP	C	C	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:53028835C>A	ENST00000276480.7	-	25	3686	c.3003G>T	c.(3001-3003)atG>atT	p.M1001I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	1001					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTGAACTTACCATCTGTGGAA	0.478																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.e25+1		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							195.0	156.0	169.0					8																	53028835		2203	4300	6503	SO:0001630	splice_region_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53028835C>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.3003+1G>T	8.37:g.53028835C>A							p.M1001_splice	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			25	3686	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	1001					Q17RY1	Splice_Site	SNP	ENST00000276480.7	37	c.3003_splice	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	34	5.363299	0.95877	.	.	ENSG00000147488	ENST00000276480	T	0.49139	0.79	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.69033	0.3066	M	0.68317	2.08	0.80722	D	1	D	0.64830	0.994	D	0.72338	0.977	T	0.67995	-0.5526	10	0.54805	T	0.06	-22.9673	20.0735	0.97734	0.0:1.0:0.0:0.0	.	1001	O60284	ST18_HUMAN	I	1001	ENSP00000276480:M1001I	ENSP00000276480:M1001I	M	-	3	0	ST18	53191388	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.764000	0.85297	2.745000	0.94114	0.655000	0.94253	ATG		0.478	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		Missense_Mutation	12	398	1	0	6.72482e-11	1	7.36967e-11	12	398				
FAM47C	442444	broad.mit.edu	37	X	37028134	37028134	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:37028134C>T	ENST00000358047.3	+	1	1703	c.1651C>T	c.(1651-1653)Cct>Tct	p.P551S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	551										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCAGAGCCTCCTGAGACTGG	0.617																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1651-1653)Cct>Tct		family with sequence similarity 47, member C							57.0	63.0	61.0					X																	37028134		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37028134C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1651C>T	X.37:g.37028134C>T	ENSP00000367913:p.Pro551Ser						p.P551S	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1703	+			551					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1651C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	13.89	2.371516	0.42003	.	.	ENSG00000198173	ENST00000358047	T	0.22134	1.97	1.66	1.66	0.24008	.	.	.	.	.	T	0.27731	0.0682	M	0.62266	1.93	0.18873	N	0.999988	D	0.55172	0.97	P	0.51615	0.675	T	0.14504	-1.0470	9	0.16420	T	0.52	.	9.154	0.36980	0.0:1.0:0.0:0.0	.	551	Q5HY64	FA47C_HUMAN	S	551	ENSP00000367913:P551S	ENSP00000367913:P551S	P	+	1	0	FAM47C	36938055	0.007000	0.16637	0.019000	0.16419	0.025000	0.11179	1.072000	0.30678	0.792000	0.33850	0.409000	0.27619	CCT		0.617	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		7	757	0	0	0	1	0	7	757				
LSM2	57819	broad.mit.edu	37	6	31765568	31765568	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:31765568G>A	ENST00000375661.5	-	5	480	c.254C>T	c.(253-255)gCg>gTg	p.A85V	VARS_ENST00000375663.3_5'Flank|LSM2_ENST00000491421.1_5'UTR|VARS_ENST00000444930.2_5'Flank	NM_021177.4	NP_067000.1	Q9Y333	LSM2_HUMAN	LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)	85					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|U6 snRNA binding (GO:0017070)			large_intestine(1)|lung(1)	2						CTTCCTTGCCGCATCCTGTAG	0.542																																						ENST00000375661.5																			0				large_intestine(1)|lung(1)	2						c.(253-255)gCg>gTg		LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)							216.0	226.0	223.0					6																	31765568		1511	2708	4219	SO:0001583	missense	57819				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytosol|nucleoplasm	U6 snRNA binding	g.chr6:31765568G>A	AF182288	CCDS4722.1	6p21.3	2010-02-17	2003-02-17	2003-02-21	ENSG00000204392	ENSG00000204392			13940	protein-coding gene	gene with protein product		607282	"""chromosome 6 open reading frame 28"""	C6orf28		10523320, 8428774	Standard	NM_021177		Approved	G7b, YBL026W	uc003nxg.3	Q9Y333	OTTHUMG00000031121	ENST00000375661.5:c.254C>T	6.37:g.31765568G>A	ENSP00000364813:p.Ala85Val					LSM2_ENST00000491421.1_5'UTR	p.A85V	NM_021177.4	NP_067000.1	Q9Y333	LSM2_HUMAN			5	480	-			85					Q6FGG1	Missense_Mutation	SNP	ENST00000375661.5	37	c.254C>T	CCDS4722.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013900	0.93404	.	.	ENSG00000204392	ENST00000375661	T	0.43688	0.94	5.61	5.61	0.85477	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	.	.	.	0.80722	D	1	D	0.61080	0.989	P	0.50109	0.631	T	0.39683	-0.9602	9	0.54805	T	0.06	-12.3752	17.1255	0.86713	0.0:0.0:1.0:0.0	.	85	Q9Y333	LSM2_HUMAN	V	85	ENSP00000364813:A85V	ENSP00000364813:A85V	A	-	2	0	LSM2	31873547	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	8.768000	0.91737	2.659000	0.90383	0.491000	0.48974	GCG		0.542	LSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076205.2	NM_021177		7	941	0	0	0	1	0	7	941				
PANX1	24145	broad.mit.edu	37	11	93913034	93913034	+	Missense_Mutation	SNP	G	G	A	rs189649511		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:93913034G>A	ENST00000227638.3	+	4	1197	c.812G>A	c.(811-813)gGc>gAc	p.G271D	PANX1_ENST00000436171.2_Missense_Mutation_p.G271D	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	271					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	ATTGCCGTGGGCATCTTCCAG	0.502																																						ENST00000227638.3																			0				endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(811-813)gGc>gAc		pannexin 1							315.0	270.0	285.0					11																	93913034		2201	4298	6499	SO:0001583	missense	24145				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	g.chr11:93913034G>A	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"""Ion channels / Pannexins"""	8599	protein-coding gene	gene with protein product	"""innexin"""	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.812G>A	11.37:g.93913034G>A	ENSP00000227638:p.Gly271Asp					PANX1_ENST00000436171.2_Missense_Mutation_p.G271D	p.G271D	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN			4	1197	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	271					O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP	ENST00000227638.3	37	c.812G>A	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102161	0.76983	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.19669	2.13;2.13	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.52273	0.1724	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.49341	-0.8950	10	0.52906	T	0.07	-36.6712	19.9882	0.97356	0.0:0.0:1.0:0.0	.	271;271	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	D	271	ENSP00000227638:G271D;ENSP00000411461:G271D	ENSP00000227638:G271D	G	+	2	0	PANX1	93552682	1.000000	0.71417	0.906000	0.35671	0.256000	0.26092	7.453000	0.80700	2.824000	0.97209	0.655000	0.94253	GGC		0.502	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368		6	778	0	0	0	1	0	6	778				
ATP11A	23250	broad.mit.edu	37	13	113487219	113487219	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr13:113487219G>A	ENST00000487903.1	+	14	1529	c.1441G>A	c.(1441-1443)Gtc>Atc	p.V481I	ATP11A_ENST00000375630.2_Missense_Mutation_p.V481I|ATP11A_ENST00000283558.8_Missense_Mutation_p.V481I|ATP11A_ENST00000375645.3_Missense_Mutation_p.V481I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	481					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CTGCCACACCGTCCAGGTGAA	0.582																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(1441-1443)Gtc>Atc		ATPase, class VI, type 11A							153.0	171.0	164.0					13																	113487219		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113487219G>A	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1441G>A	13.37:g.113487219G>A	ENSP00000420387:p.Val481Ile					ATP11A_ENST00000283558.8_Missense_Mutation_p.V481I|ATP11A_ENST00000375630.2_Missense_Mutation_p.V481I|ATP11A_ENST00000375645.3_Missense_Mutation_p.V481I	p.V481I			P98196	AT11A_HUMAN			14	1529	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	481					Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.1441G>A	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066217	0.55539	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.71	1.25	0.21368	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.112246	0.64402	N	0.000012	T	0.71333	0.3327	M	0.79693	2.465	0.49798	D	0.999821	B;P;B	0.34977	0.083;0.478;0.078	B;B;B	0.40375	0.05;0.323;0.327	T	0.73512	-0.3959	10	0.62326	D	0.03	.	15.3928	0.74758	0.1045:0.0:0.8955:0.0	.	481;481;481	E9PCW5;E9PEJ6;P98196	.;.;AT11A_HUMAN	I	481	ENSP00000420387:V481I;ENSP00000364781:V481I;ENSP00000364796:V481I;ENSP00000283558:V481I	ENSP00000283558:V481I	V	+	1	0	ATP11A	112535220	1.000000	0.71417	0.103000	0.21229	0.767000	0.43475	3.808000	0.55598	-0.054000	0.13266	0.561000	0.74099	GTC		0.582	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		7	1322	0	0	0	1	0	7	1322				
UBB	7314	broad.mit.edu	37	17	16285638	16285638	+	Silent	SNP	G	G	A	rs534325931		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:16285638G>A	ENST00000395837.1	+	2	598	c.417G>A	c.(415-417)aaG>aaA	p.K139K	UBB_ENST00000302182.3_Silent_p.K139K|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.K139K|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	139	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		ACATCCAGAAGGAGTCGACCC	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		24534	0.001		0.0	False		,,,				2504	0.0				Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(415-417)aaG>aaA		ubiquitin B																																				SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285638G>A		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.417G>A	17.37:g.16285638G>A						UBB_ENST00000395839.1_Silent_p.K139K|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron|UBB_ENST00000395837.1_Silent_p.K139K	p.K139K	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	809	+			139			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.417G>A	CCDS11177.1																																																																																				0.567	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		5	463	0	0	0	1	0	5	463				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			7	445	0	0	0	1	0	7	445				
MCM6	4175	broad.mit.edu	37	2	136615535	136615535	+	Missense_Mutation	SNP	G	G	A	rs138808270		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:136615535G>A	ENST00000264156.2	-	10	1462	c.1402C>T	c.(1402-1404)Cgg>Tgg	p.R468W	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	468	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		ACTTGATCCCGCACGTCCATC	0.428																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(1402-1404)Cgg>Tgg		minichromosome maintenance complex component 6	Atorvastatin(DB01076)	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	277.0	226.0	243.0		1402	2.6	1.0	2	dbSNP_134	243	0,8600		0,0,4300	no	missense	MCM6	NM_005915.4	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	468/822	136615535	1,13005	2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136615535G>A		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1402C>T	2.37:g.136615535G>A	ENSP00000264156:p.Arg468Trp					MCM6_ENST00000492091.1_Intron	p.R468W	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	10	1462	-			468			MCM.		B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.1402C>T	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906911	0.72868	2.27E-4	0.0	ENSG00000076003	ENST00000264156	T	0.07021	3.23	5.68	2.57	0.30868	.	0.090508	0.64402	D	0.000001	T	0.23926	0.0579	M	0.73598	2.24	0.54753	D	0.999987	D	0.76494	0.999	D	0.70227	0.968	T	0.00722	-1.1594	10	0.87932	D	0	-9.4893	9.1095	0.36718	0.0764:0.0:0.5305:0.3931	.	468	Q14566	MCM6_HUMAN	W	468	ENSP00000264156:R468W	ENSP00000264156:R468W	R	-	1	2	MCM6	136332005	1.000000	0.71417	0.975000	0.42487	0.965000	0.64279	2.518000	0.45537	0.738000	0.32606	0.561000	0.74099	CGG		0.428	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		6	733	0	0	0	1	0	6	733				
FMN2	56776	broad.mit.edu	37	1	240371421	240371421	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:240371421C>T	ENST00000319653.9	+	5	3539	c.3309C>T	c.(3307-3309)ccC>ccT	p.P1103P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1103	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1246P(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTACCCGGAGTGGGCA	0.736																																						ENST00000319653.9																			2	Substitution - coding silent(2)	p.P1246P(2)	prostate(2)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3307-3309)ccC>ccT		formin 2																																				SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371421C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3309C>T	1.37:g.240371421C>T							p.P1103P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3539	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1103			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3309C>T	CCDS31069.2																																																																																				0.736	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		6	273	0	0	0	1	0	6	273				
ZCCHC9	84240	broad.mit.edu	37	5	80607084	80607084	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:80607084A>C	ENST00000254037.2	+	4	3838	c.683A>C	c.(682-684)gAa>gCa	p.E228A	ZCCHC9_ENST00000380199.5_Missense_Mutation_p.E228A|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.E228A|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.E228A			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	228					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		GATTGCCCTGAAAGTCAGAAT	0.413																																						ENST00000254037.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13						c.(682-684)gAa>gCa		zinc finger, CCHC domain containing 9							254.0	271.0	265.0					5																	80607084		2203	4300	6503	SO:0001583	missense	84240						nucleic acid binding|zinc ion binding	g.chr5:80607084A>C	BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"""Zinc fingers, CCHC domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25424	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 41"""					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.683A>C	5.37:g.80607084A>C	ENSP00000254037:p.Glu228Ala					ZCCHC9_ENST00000438268.2_Missense_Mutation_p.E228A|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.E228A|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.E228A	p.E228A			Q8N567	ZCHC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)	4	3838	+		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)	228					B2RAE7|Q9H027	Missense_Mutation	SNP	ENST00000254037.2	37	c.683A>C	CCDS4054.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.016841	0.75161	.	.	ENSG00000131732	ENST00000254037;ENST00000407610;ENST00000380199;ENST00000438268	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.32	5.32	0.75619	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (2);	0.149315	0.64402	D	0.000016	T	0.57636	0.2067	M	0.76838	2.35	0.58432	D	0.99999	B	0.34103	0.437	B	0.41666	0.363	T	0.62129	-0.6919	10	0.56958	D	0.05	-18.5656	15.2491	0.73529	1.0:0.0:0.0:0.0	.	228	Q8N567	ZCHC9_HUMAN	A	228	ENSP00000254037:E228A;ENSP00000385047:E228A;ENSP00000369546:E228A;ENSP00000412637:E228A	ENSP00000254037:E228A	E	+	2	0	ZCCHC9	80642840	1.000000	0.71417	0.020000	0.16555	0.983000	0.72400	5.943000	0.70211	2.153000	0.67306	0.528000	0.53228	GAA		0.413	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	NM_032280		6	1039	0	0	0	1	0	6	1039				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		11	427	0	0	0	1	0	11	427				
NCOR1	9611	broad.mit.edu	37	17	15935762	15935762	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:15935762G>A	ENST00000268712.3	-	46	7428	c.7171C>T	c.(7171-7173)Cgg>Tgg	p.R2391W	NCOR1_ENST00000395851.1_Missense_Mutation_p.R2288W|NCOR1_ENST00000395857.3_Missense_Mutation_p.R975W	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2391	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.R2391W(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTGAGCATCCGCATAGTCAGA	0.468																																						ENST00000268712.3																			1	Substitution - Missense(1)	p.R2391W(1)	prostate(1)	NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(7171-7173)Cgg>Tgg		nuclear receptor corepressor 1							117.0	106.0	110.0					17																	15935762		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15935762G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.7171C>T	17.37:g.15935762G>A	ENSP00000268712:p.Arg2391Trp					NCOR1_ENST00000395857.3_Missense_Mutation_p.R975W|NCOR1_ENST00000395851.1_Missense_Mutation_p.R2288W	p.R2391W	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	46	7428	-			2391			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.7171C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778640	0.70107	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.62364	0.03;0.64;0.15	5.96	3.9	0.45041	.	0.048575	0.85682	D	0.000000	T	0.75510	0.3859	M	0.72894	2.215	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;P;D;D;D	0.79108	0.947;0.893;0.992;0.987;0.976	T	0.76418	-0.2966	10	0.87932	D	0	-9.7742	10.6076	0.45402	0.0:0.1166:0.4874:0.3961	.	2294;2391;2288;910;404	E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;NCOR1_HUMAN;.;.;.	W	2391;2288;2294;975	ENSP00000268712:R2391W;ENSP00000379192:R2288W;ENSP00000379198:R975W	ENSP00000268712:R2391W	R	-	1	2	NCOR1	15876487	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.109000	0.50345	0.780000	0.33566	-0.181000	0.13052	CGG		0.468	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		5	380	0	0	0	1	0	5	380				
OTX1	5013	broad.mit.edu	37	2	63283274	63283274	+	Silent	SNP	T	T	C			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:63283274T>C	ENST00000282549.2	+	5	1164	c.888T>C	c.(886-888)caT>caC	p.H296H	OTX1_ENST00000366671.3_Silent_p.H296H	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	296	His-rich.				anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					accaccaccatcaccaccacc	0.642																																						ENST00000366671.3																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(886-888)caT>caC		orthodenticle homeobox 1							99.0	75.0	83.0					2																	63283274		2203	4300	6503	SO:0001819	synonymous_variant	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283274T>C		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.888T>C	2.37:g.63283274T>C						OTX1_ENST00000282549.2_Silent_p.H296H	p.H296H	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN			5	1164	+	Lung NSC(7;0.121)|all_lung(7;0.211)		296			His-rich.		A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	c.888T>C	CCDS1873.1																																																																																				0.642	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			9	382	0	0	0	1	0	9	382				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		13	205	0	0	0	1	0	13	205				
PTGES2	80142	broad.mit.edu	37	9	130885345	130885345	+	Missense_Mutation	SNP	C	C	T	rs368666888		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr9:130885345C>T	ENST00000338961.6	-	5	1499	c.755G>A	c.(754-756)cGc>cAc	p.R252H	PTGES2_ENST00000277462.5_Missense_Mutation_p.R61H|PTGES2_ENST00000483625.1_5'UTR	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	252					cell redox homeostasis (GO:0045454)|positive regulation of transcription, DNA-templated (GO:0045893)|prostaglandin biosynthetic process (GO:0001516)|secretion (GO:0046903)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|glutathione binding (GO:0043295)|heme binding (GO:0020037)|lyase activity (GO:0016829)|prostaglandin-E synthase activity (GO:0050220)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(2)	4						GGTGGGCGTGCGGTACACATT	0.657																																						ENST00000338961.6																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(754-756)cGc>cAc		prostaglandin E synthase 2		C	HIS/ARG	0,4406		0,0,2203	60.0	54.0	56.0		755	3.5	1.0	9		56	1,8599		0,1,4299	no	missense	PTGES2	NM_025072.5	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	252/378	130885345	1,13005	2203	4300	6503	SO:0001583	missense	80142				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity	g.chr9:130885345C>T	AK024100	CCDS6891.1	9q34.12	2008-05-06	2002-06-13	2002-06-14	ENSG00000148334	ENSG00000148334			17822	protein-coding gene	gene with protein product		608152	"""chromosome 9 open reading frame 15"""	C9orf15		11866447	Standard	NM_025072		Approved	FLJ14038	uc004bti.4	Q9H7Z7	OTTHUMG00000020730	ENST00000338961.6:c.755G>A	9.37:g.130885345C>T	ENSP00000345341:p.Arg252His					PTGES2_ENST00000277462.5_Missense_Mutation_p.R61H|PTGES2_ENST00000483625.1_5'UTR	p.R252H	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN			5	1499	-			252					Q53EW9|Q5SYV6|Q96GI0|Q96GL2	Missense_Mutation	SNP	ENST00000338961.6	37	c.755G>A	CCDS6891.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837248	0.91117	0.0	1.16E-4	ENSG00000148334	ENST00000338961;ENST00000277462;ENST00000449878	T;T;T	0.44482	0.92;0.92;0.92	5.42	3.52	0.40303	Glutathione S-transferase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.65260	0.2674	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.69877	-0.5026	10	0.62326	D	0.03	-7.5349	9.8637	0.41129	0.1372:0.789:0.0:0.0738	.	252	Q9H7Z7	PGES2_HUMAN	H	252;61;217	ENSP00000345341:R252H;ENSP00000277462:R61H;ENSP00000411378:R217H	ENSP00000277462:R61H	R	-	2	0	PTGES2	129925166	1.000000	0.71417	0.999000	0.59377	0.860000	0.49131	5.787000	0.69013	1.262000	0.44165	0.561000	0.74099	CGC		0.657	PTGES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054339.1			5	353	0	0	0	1	0	5	353				
CROCCP2	84809	broad.mit.edu	37	1	16948524	16948526	+	lincRNA	DEL	GCA	GCA	-	rs367956747	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:16948524_16948526delGCA	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CGCTCAGCCTGCACCAGCTTCTG	0.616														40	0.00798722	0.0	0.0072	5008	,	,		73400	0.0		0.0249	False		,,,				2504	0.0102					ENST00000412962.1																			0																																																			0							g.chr1:16948524_16948526delGCA	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16948524_16948526delGCA														0	1000	-								Q8NF65|Q96FR5|Q9BRE8	RNA	DEL	ENST00000412962.1	37																																																																																						0.616	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		49	397						49	397	---	---	---	---
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Intron	DEL	TG	TG	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:32670247_32670248delTG	ENST00000373602.5	+	5	895				RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA|CCDC28B_ENST00000483009.1_Intron|IQCC_ENST00000291358.6_5'Flank|IQCC_ENST00000537469.1_5'Flank|CCDC28B_ENST00000421922.2_Frame_Shift_Del_p.C192fs	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B						cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.5																																						ENST00000421922.2																			0				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(574-576)tfs		coiled-coil domain containing 28B																																				SO:0001627	intron_variant	79140							g.chr1:32670247_32670248delTG	BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.548+26TG>-	1.37:g.32670255_32670256delTG						CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron	p.C192fs			Q9BUN5	CC28B_HUMAN			5	674_675	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	0					A8K789|Q8TBV8	Frame_Shift_Del	DEL	ENST00000373602.5	37	c.574_575delTG	CCDS354.2																																																																																				0.500	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015723.4	NM_024296		8	898						8	898	---	---	---	---
SLC6A9	6536	broad.mit.edu	37	1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-	rs201148088		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aaafs	p.K4fs	SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000475075.2_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTTTGGCACCTTTTCCTACCA	0.627																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(10-12)aafs		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						231.0	218.0	222.0					1																	44489938		2203	4300	6503	SO:0001589	frameshift_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44489938delT	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000372310.3:c.12delA	1.37:g.44489938delT	ENSP00000361384:p.Lys4fs					SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000475075.2_5'UTR	p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			2	177	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	335					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Frame_Shift_Del	DEL	ENST00000372310.3	37	c.12delA	CCDS30695.1																																																																																				0.627	SLC6A9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022827.1	NM_201649		9	1824						9	1824	---	---	---	---
ST6GALNAC5	81849	broad.mit.edu	37	1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-	rs113832855|rs373434974		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	49	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.7																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(109-114)ccg>cc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5				633,280,2837		87,67,392,25,163,1141						-1.1	1.0		dbSNP_132	16	606,89,6499		39,5,523,5,74,2951	no	codingComplex	ST6GALNAC5	NM_030965.1		126,72,915,30,237,4092	A1A1,A1A2,A1R,A2A2,A2R,RR		9.6608,24.3467,14.693				1239,369,9336				SO:0001651	inframe_deletion	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334277_77334279delGCA		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.111_113delGCA	1.37:g.77334286_77334288delGCA	ENSP00000417583:p.Gln49del					ST6GALNAC5_ENST00000496845.1_3'UTR	p.PQ37del	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	346_348	+			37					B1AK82	In_Frame_Del	DEL	ENST00000477717.1	37	c.111_113delGCA	CCDS673.1																																																																																				0.700	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		12	271						12	271	---	---	---	---
CLCA4	22802	broad.mit.edu	37	1	87029432	87029432	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:87029432delA	ENST00000370563.3	+	4	579	c.537delA	c.(535-537)tcafs	p.S179fs	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	179	Metalloprotease domain. {ECO:0000250|UniProtKB:A8K7I4}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GTGCTAAGTCAAAAAAAATCG	0.403																																						ENST00000370563.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(535-537)tcfs		chloride channel accessory 4							85.0	82.0	83.0					1																	87029432		1906	4147	6053	SO:0001589	frameshift_variant	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87029432delA	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.537delA	1.37:g.87029432delA	ENSP00000359594:p.Ser179fs					CLCA4_ENST00000263723.5_5'UTR	p.S179fs	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	4	579	+		Lung NSC(277;0.238)	179					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Frame_Shift_Del	DEL	ENST00000370563.3	37	c.537delA	CCDS41355.1																																																																																				0.403	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		10	283						10	283	---	---	---	---
GBP1P1	400759	broad.mit.edu	37	1	89887469	89887469	+	RNA	DEL	G	G	-	rs368250339|rs12568474|rs533659254|rs67428662|rs574247327	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:89887469delG	ENST00000513638.1	+	0	557					NR_003133.2				guanylate binding protein 1, interferon-inducible pseudogene 1																		ctgtatttctgaaaaaaaaaa	0.318													?|G|-|unsure	4319	0.86242	0.9213	0.9236	5008	,	,		14349	0.7282		0.8887	False		,,,				2504	0.8507					ENST00000513638.1																			0																																																			0							g.chr1:89887469delG			1p22.2	2011-03-09			ENSG00000225492	ENSG00000225492			39561	pseudogene	pseudogene							Standard	NR_003133		Approved		uc009wcy.1		OTTHUMG00000010128		1.37:g.89887469delG								NR_003133.2						0	557	+									RNA	DEL	ENST00000513638.1	37																																																																																						0.318	GBP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000360073.1	NR_003133		5	8						5	8	---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114968116	114968118	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:114968116_114968118delTGT	ENST00000358465.2	-	9	1731_1733	c.1648_1650delACA	c.(1648-1650)acadel	p.T550del	TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del|TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	550	Poly-Thr.				gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGCTGTTGTGTTGTTGTTGTT	0.429			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1648-1650)del		tripartite motif containing 33																																				SO:0001651	inframe_deletion	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968116_114968118delTGT	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1648_1650delACA	1.37:g.114968125_114968127delTGT	ENSP00000351250:p.Thr550del					TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del|TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del	p.T550del	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1731_1733	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	550			Poly-Thr.		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	In_Frame_Del	DEL	ENST00000358465.2	37	c.1648_1650delACA	CCDS872.1																																																																																				0.429	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		7	1251						7	1251	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	lincRNA	DEL	T	T	-	rs377003181		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:121116645delT	ENST00000437515.1	-	0	329					NR_104189.1																						CAAGCCCCCCTTTAAAAAAAA	0.393																																						ENST00000437515.1																			0																																																			0							g.chr1:121116645delT																													1.37:g.121116645delT														0	329	-									RNA	DEL	ENST00000437515.1	37																																																																																						0.393	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			11	244						11	244	---	---	---	---
PVRL4	81607	broad.mit.edu	37	1	161044057	161044059	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:161044057_161044059delCAC	ENST00000368012.3	-	6	1407_1409	c.1105_1107delGTG	c.(1105-1107)gtgdel	p.V369del	PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del|PVRL4_ENST00000486694.1_5'Flank	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	369					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGGACATGAGCACCACCACCACC	0.571																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(1105-1107)del		poliovirus receptor-related 4																																				SO:0001651	inframe_deletion	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161044057_161044059delCAC	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1105_1107delGTG	1.37:g.161044066_161044068delCAC	ENSP00000356991:p.Val369del					PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del	p.V369del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		6	1407_1409	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		369					B4DQW3|Q96K15	In_Frame_Del	DEL	ENST00000368012.3	37	c.1105_1107delGTG	CCDS1216.1																																																																																				0.571	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		11	561						11	561	---	---	---	---
ZC3H11A	9877	broad.mit.edu	37	1	203816503	203816504	+	Frame_Shift_Ins	INS	-	-	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:203816503_203816504insA	ENST00000545588.1	+	12	5061_5062	c.1234_1235insA	c.(1234-1236)gaafs	p.E412fs	ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.E412fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.E412fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.E412fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.E412fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	412				E -> K (in Ref. 3; CAH10525). {ECO:0000305}.	poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGTCCTGGCTGAAAAAAAACAT	0.386																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1234-1236)aaafs		zinc finger CCCH-type containing 11A																																				SO:0001589	frameshift_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203816503_203816504insA		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1242dupA	1.37:g.203816511_203816511dupA	ENSP00000438527:p.Glu412fs					ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.K412fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.K412fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.K412fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.K412fs	p.K412fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		12	5061_5062	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		412	E -> K (in Ref. 3; CAH10525).				Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Frame_Shift_Ins	INS	ENST00000545588.1	37	c.1234_1235insA	CCDS30978.1																																																																																				0.386	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		10	277						10	277	---	---	---	---
PARP1	142	broad.mit.edu	37	1	226567647	226567647	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:226567647delT	ENST00000366794.5	-	10	1662	c.1519delA	c.(1519-1521)agcfs	p.S507fs		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	507	Automodification domain.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TGGCCCTTGCTTTTTTTGGAG	0.607								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(1519-1521)gcfs	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							89.0	98.0	95.0					1																	226567647		2203	4300	6503	SO:0001589	frameshift_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226567647delT	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1519delA	1.37:g.226567647delT	ENSP00000355759:p.Ser507fs						p.S507fs	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	10	1662	-	Breast(184;0.133)		507			Automodification domain.		B1ANJ4|Q8IUZ9	Frame_Shift_Del	DEL	ENST00000366794.5	37	c.1519delA	CCDS1554.1																																																																																				0.607	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		7	923						7	923	---	---	---	---
KIF3C	3797	broad.mit.edu	37	2	26203464	26203466	+	In_Frame_Del	DEL	GTT	GTT	-	rs370364677		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:26203464_26203466delGTT	ENST00000264712.3	-	1	1900_1902	c.1321_1323delAAC	c.(1321-1323)aacdel	p.N441del	KIF3C_ENST00000405914.1_In_Frame_Del_p.N441del	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	441	Poly-Asn.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGGCGGTGGTTGTTGTTGTTG	0.621																																						ENST00000264712.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1321-1323)del		kinesin family member 3C				2,4264		0,2,2131						1.5	1.0			92	6,8248		0,6,4121	no	coding	KIF3C	NM_002254.6		0,8,6252	A1A1,A1R,RR		0.0727,0.0469,0.0639				8,12512				SO:0001651	inframe_deletion	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26203464_26203466delGTT		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1321_1323delAAC	2.37:g.26203473_26203475delGTT	ENSP00000264712:p.Asn441del					KIF3C_ENST00000405914.1_In_Frame_Del_p.N441del	p.N441del	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			1	1900_1902	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		441			Poly-Asn.		O43544|Q4ZG18|Q53SX5|Q562F7	In_Frame_Del	DEL	ENST00000264712.3	37	c.1321_1323delAAC	CCDS1719.1																																																																																				0.621	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			10	891						10	891	---	---	---	---
DHX57	90957	broad.mit.edu	37	2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-	rs199521315|rs372484063|rs199910361	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		17	462						17	462	---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39213243	39213243	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:39213243delT	ENST00000426016.1	-	24	3810	c.3724delA	c.(3724-3726)agtfs	p.S1242fs	SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs|SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1242					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CCATGGTCACTTTTTTTGCCC	0.517									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(3724-3726)gtfs		son of sevenless homolog 1 (Drosophila)							134.0	134.0	134.0					2																	39213243		2203	4300	6503	SO:0001589	frameshift_variant	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39213243delT	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3724delA	2.37:g.39213243delT	ENSP00000387784:p.Ser1242fs					SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs	p.S1242fs			Q07889	SOS1_HUMAN			24	3810	-		all_hematologic(82;0.21)	1242					A8K2G3|B4DXG2	Frame_Shift_Del	DEL	ENST00000426016.1	37	c.3724delA	CCDS1802.1																																																																																				0.517	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		10	471						10	471	---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39222520	39222520	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:39222520delT	ENST00000426016.1	-	21	3176	c.3090delA	c.(3088-3090)aaafs	p.K1030fs	SOS1_ENST00000395038.2_Frame_Shift_Del_p.K1030fs|SOS1_ENST00000402219.2_Frame_Shift_Del_p.K1030fs|SOS1-IT1_ENST00000594472.1_RNA			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1030					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GATAGCTATATTTTTTTGGCT	0.388									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(3088-3090)aafs		son of sevenless homolog 1 (Drosophila)							91.0	94.0	93.0					2																	39222520		2203	4300	6503	SO:0001589	frameshift_variant	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39222520delT	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3090delA	2.37:g.39222520delT	ENSP00000387784:p.Lys1030fs					SOS1_ENST00000402219.2_Frame_Shift_Del_p.K1030fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.K1030fs	p.K1030fs			Q07889	SOS1_HUMAN			21	3176	-		all_hematologic(82;0.21)	1030					A8K2G3|B4DXG2	Frame_Shift_Del	DEL	ENST00000426016.1	37	c.3090delA	CCDS1802.1																																																																																				0.388	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		7	444						7	444	---	---	---	---
AC027612.3	0	broad.mit.edu	37	2	91887904	91887905	+	RNA	INS	-	-	T	rs374250838|rs373336109|rs369805878|rs199562278	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:91887904_91887905insT	ENST00000436174.1	-	0	540																											AGCTATTTTCCATTTTTTTTTT	0.292																																						ENST00000436174.1																			0																																																			0							g.chr2:91887904_91887905insT																													2.37:g.91887904_91887905insT														0	540	-									RNA	INS	ENST00000436174.1	37																																																																																						0.292	AC027612.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338339.1			8	225						8	225	---	---	---	---
TEKT4	150483	broad.mit.edu	37	2	95539829	95539830	+	Frame_Shift_Ins	INS	-	-	G	rs149873671		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:95539829_95539830insG	ENST00000295201.4	+	3	826_827	c.689_690insG	c.(688-693)ccgtacfs	p.Y231fs	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	231					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.P230P(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGGCTCATCCGTACTCCACCA	0.663																																						ENST00000295201.4																			1	Substitution - coding silent(1)	p.P230P(1)	lung(1)	NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(688-690)ctafs		tektin 4																																				SO:0001589	frameshift_variant	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95539829_95539830insG	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.690dupG	2.37:g.95539830_95539830dupG	ENSP00000295201:p.Tyr231fs					AC097374.2_ENST00000568768.1_RNA	p.L230fs	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			3	826_827	+			230						Frame_Shift_Ins	INS	ENST00000295201.4	37	c.689_690insG	CCDS2005.1																																																																																				0.663	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		8	544						8	544	---	---	---	---
SLC20A1	6574	broad.mit.edu	37	2	113416607	113416608	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:113416607_113416608delAG	ENST00000272542.3	+	7	1523_1524	c.984_985delAG	c.(982-987)ccagagfs	p.E329fs	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	329					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)	p.R332fs*14(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGGAAGCTCCAGAGAGAGAGAG	0.515																																						ENST00000272542.3																			1	Deletion - Frameshift(1)	p.R332fs*14(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(982-987)ccagfs		solute carrier family 20 (phosphate transporter), member 1																																				SO:0001589	frameshift_variant	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113416607_113416608delAG		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.984_985delAG	2.37:g.113416617_113416618delAG	ENSP00000272542:p.Glu329fs					SLC20A1_ENST00000480984.1_3'UTR	p.PE328fs	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			7	1523_1524	+			328					Q08344|Q6DHX8|Q9UQ82	Frame_Shift_Del	DEL	ENST00000272542.3	37	c.984_985delAG	CCDS2099.1																																																																																				0.515	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		10	392						10	392	---	---	---	---
KLHL41	10324	broad.mit.edu	37	2	170366496	170366496	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:170366496delA	ENST00000284669.1	+	1	285	c.208delA	c.(208-210)aaafs	p.K72fs	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	72	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											TGATGAGGCGAAAAAAAAGGA	0.388																																						ENST00000284669.1																			0											c.(208-210)aafs		kelch-like family member 41							145.0	144.0	145.0					2																	170366496		2203	4300	6503	SO:0001589	frameshift_variant	10324							g.chr2:170366496delA	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.208delA	2.37:g.170366496delA	ENSP00000284669:p.Lys72fs					RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	p.K72fs	NM_006063.2	NP_006054.2					1	285	+								Q53R42	Frame_Shift_Del	DEL	ENST00000284669.1	37	c.208delA	CCDS2234.1																																																																																				0.388	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		10	751						10	751	---	---	---	---
FAM134A	79137	broad.mit.edu	37	2	220046969	220046969	+	Frame_Shift_Del	DEL	C	C	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:220046969delC	ENST00000430297.2	+	9	1386	c.1250delC	c.(1249-1251)tccfs	p.S417fs		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	417						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGCAGGGTCCCCCCCAGAT	0.602																																						ENST00000430297.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19						c.(1249-1251)tcfs		family with sequence similarity 134, member A							111.0	119.0	117.0					2																	220046969		2203	4300	6503	SO:0001589	frameshift_variant	79137					endoplasmic reticulum|integral to membrane		g.chr2:220046969delC	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.1250delC	2.37:g.220046969delC	ENSP00000395249:p.Ser417fs						p.S417fs	NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1386	+		Renal(207;0.0915)	417					Q6P1P5|Q9H0K7	Frame_Shift_Del	DEL	ENST00000430297.2	37	c.1250delC	CCDS2434.1																																																																																				0.602	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		7	1101						7	1101	---	---	---	---
SLC4A3	6508	broad.mit.edu	37	2	220496799	220496801	+	In_Frame_Del	DEL	GAA	GAA	-	rs557843124	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:220496799_220496801delGAA	ENST00000358055.3	+	7	1433_1435	c.921_923delGAA	c.(919-924)aggaag>agg	p.K313del	SLC4A3_ENST00000373762.3_In_Frame_Del_p.K340del|SLC4A3_ENST00000273063.6_In_Frame_Del_p.K340del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_In_Frame_Del_p.K313del|SLC4A3_ENST00000317151.3_In_Frame_Del_p.K313del			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	313	Poly-Lys.				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTTCGCAGGAAGAAGAAGAAG	0.65														5	0.000998403	0.0	0.0058	5008	,	,		20005	0.001		0.0	False		,,,				2504	0.0					ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(919-924)agg>ag		solute carrier family 4 (anion exchanger), member 3			,	46,4208		1,44,2082					,	3.4	1.0			35	90,8146		2,86,4030	no	coding,coding	SLC4A3	NM_201574.2,NM_005070.3	,	3,130,6112	A1A1,A1R,RR		1.0928,1.0813,1.0889	,	,		136,12354				SO:0001651	inframe_deletion	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220496799_220496801delGAA		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.921_923delGAA	2.37:g.220496808_220496810delGAA	ENSP00000350756:p.Lys313del					SLC4A3_ENST00000317151.3_In_Frame_Del_p.RK307del|SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del|SLC4A3_ENST00000273063.6_In_Frame_Del_p.RK334del	p.RK307del			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1433_1435	+		Renal(207;0.0183)	307					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	In_Frame_Del	DEL	ENST00000358055.3	37	c.921_923delGAA	CCDS2445.1																																																																																				0.650	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		9	457						9	457	---	---	---	---
APEH	327	broad.mit.edu	37	3	49723112	49723112	+	IGR	DEL	T	T	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:49723112delT	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Frame_Shift_Del_p.N435fs|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCATCTGGGTTCCGGCAGAA	0.587																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1303-1305)acfs		macrophage stimulating 1 (hepatocyte growth factor-like)							43.0	42.0	43.0					3																	49723112		2203	4300	6503	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723112delT	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723112delT						MST1_ENST00000383728.3_3'UTR	p.N435fs	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1665	-			421			Kringle 4.		Q9BQ33|Q9P0Y2	Frame_Shift_Del	DEL	ENST00000296456.5	37	c.1304delA	CCDS2801.1																																																																																				0.587	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			13	320						13	320	---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(13-15)del		leukemia NUP98 fusion partner 1																																				SO:0001651	inframe_deletion	348801							g.chr3:100148586_100148588delGAT		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.13_15delGAT	3.37:g.100148595_100148597delGAT	ENSP00000373191:p.Asp10del					LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN			2	1293_1295	+			10			Poly-Asp.		B7ZLT3	In_Frame_Del	DEL	ENST00000383693.3	37	c.13_15delGAT	CCDS43120.1																																																																																				0.507	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			11	1102						11	1102	---	---	---	---
TRMT10C	54931	broad.mit.edu	37	3	101284009	101284009	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:101284009delA	ENST00000309922.6	+	2	538	c.384delA	c.(382-384)gcafs	p.A128fs		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	128					mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										CTAACACAGCaaaaaaaaaat	0.343																																						ENST00000309922.6																			0											c.(382-384)gcfs		tRNA methyltransferase 10 homolog C (S. cerevisiae)				86,83,3215		3,0,80,1,81,1527	28.0	25.0	26.0			5.9	0.8	3		29	198,238,7170		8,1,181,6,225,3382	no	codingComplex	RG9MTD1	NM_017819.2		11,1,261,7,306,4909	A1A1,A1A2,A1R,A2A2,A2R,RR		5.7323,4.9941,5.505			101284009	284,321,10385	1781	4033	5814	SO:0001589	frameshift_variant	54931							g.chr3:101284009delA	AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 1"""	615423	"""RNA (guanine-9-) methyltransferase domain containing 1"""	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.384delA	3.37:g.101284009delA	ENSP00000312356:p.Ala128fs						p.A128fs	NM_017819.2	NP_060289.2					2	538	+								Q9NRG5|Q9NX54|Q9Y596	Frame_Shift_Del	DEL	ENST00000309922.6	37	c.384delA	CCDS43122.1																																																																																				0.343	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819		11	196						11	196	---	---	---	---
KIAA1407	57577	broad.mit.edu	37	3	113699548	113699548	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:113699548delT	ENST00000295878.3	-	14	2402	c.2256delA	c.(2254-2256)aaafs	p.K752fs	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	752										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCTCTAGACCTTTTTTCCTTA	0.408																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(2254-2256)aafs		KIAA1407							239.0	229.0	233.0					3																	113699548		2203	4300	6503	SO:0001589	frameshift_variant	57577							g.chr3:113699548delT	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2256delA	3.37:g.113699548delT	ENSP00000295878:p.Lys752fs					KIAA1407_ENST00000545063.1_3'UTR	p.K752fs	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			14	2402	-			752					B4DYL1|Q9P2E0	Frame_Shift_Del	DEL	ENST00000295878.3	37	c.2256delA	CCDS2977.1																																																																																				0.408	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		8	932						8	932	---	---	---	---
GOLIM4	27333	broad.mit.edu	37	3	167747642	167747644	+	In_Frame_Del	DEL	CTG	CTG	-	rs61743912|rs370119073	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:167747642_167747644delCTG	ENST00000470487.1	-	10	2046_2048	c.1357_1359delCAG	c.(1357-1359)cagdel	p.Q453del	GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	453	Gln-rich.|Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTTGCCACctgctgctgctgc	0.64																																						ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1357-1359)del		golgi integral membrane protein 4																																				SO:0001651	inframe_deletion	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167747642_167747644delCTG	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1357_1359delCAG	3.37:g.167747651_167747653delCTG	ENSP00000417354:p.Gln453del					GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del	p.Q453del	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN			10	2046_2048	-			453			Gln-rich.|Glu-rich.			In_Frame_Del	DEL	ENST00000470487.1	37	c.1357_1359delCAG	CCDS3204.1																																																																																				0.640	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			7	296						7	296	---	---	---	---
MB21D2	151963	broad.mit.edu	37	3	192516280	192516280	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:192516280delT	ENST00000392452.2	-	2	1691	c.1371delA	c.(1369-1371)aaafs	p.K457fs		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	457							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GCTGCTGCAGTTTTTTTGCCA	0.512																																						ENST00000392452.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						c.(1369-1371)aafs		Mab-21 domain containing 2							108.0	113.0	111.0					3																	192516280		2203	4300	6503	SO:0001589	frameshift_variant	151963							g.chr3:192516280delT	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.1371delA	3.37:g.192516280delT	ENSP00000376246:p.Lys457fs						p.K457fs	NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN			2	1691	-			457					Q86VD8	Frame_Shift_Del	DEL	ENST00000392452.2	37	c.1371delA	CCDS3302.2																																																																																				0.512	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		7	844						7	844	---	---	---	---
TNK2	10188	broad.mit.edu	37	3	195595228	195595229	+	Frame_Shift_Ins	INS	-	-	G	rs541695993	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:195595228_195595229insG	ENST00000333602.6	-	12	2512_2513	c.1895_1896insC	c.(1894-1896)ccgfs	p.P632fs	TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	632	Pro-rich.|Required for interaction with NEDD4. {ECO:0000250}.|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CATAGGCGGGCGGGGGGGGCAG	0.728																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1894-1896)cccfs		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195595228_195595229insG	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1896dupC	3.37:g.195595236_195595236dupG	ENSP00000329425:p.Pro632fs					TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs|TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs	p.P632fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	12	2512_2513	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	632	Missing (in Ref. 4; AAH08884).		Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.		Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Ins	INS	ENST00000333602.6	37	c.1895_1896insC	CCDS33928.1																																																																																				0.728	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		8	580						8	580	---	---	---	---
TMEM175	84286	broad.mit.edu	37	4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tgtfs	p.C144fs	TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000504180.1_3'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTTCTTGTTCTGTGTGTGTGTG	0.515																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(430-432)tfs		transmembrane protein 175																																				SO:0001589	frameshift_variant	84286					integral to membrane		g.chr4:946206_946207delTG	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.430_431delTG	4.37:g.946216_946217delTG	ENSP00000264771:p.Cys144fs					TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs	p.C144fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	615_616	+			144					D3DVN4|Q8ND13	Frame_Shift_Del	DEL	ENST00000264771.4	37	c.430_431delTG	CCDS3341.1																																																																																				0.515	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		8	1133						8	1133	---	---	---	---
RGS12	6002	broad.mit.edu	37	4	3430398	3430399	+	Frame_Shift_Ins	INS	-	-	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:3430398_3430399insA	ENST00000344733.5	+	16	4429_4430	c.3525_3526insA	c.(3526-3528)aaafs	p.K1176fs	RGS12_ENST00000336727.3_Frame_Shift_Ins_p.K1176fs|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000382788.3_Frame_Shift_Ins_p.K1176fs|RGS12_ENST00000338806.4_Frame_Shift_Ins_p.K528fs|RGS12_ENST00000538395.1_Intron	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1176					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAAAGATTGGGAAAAAAAAATA	0.332																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3523-3528)ggaaaafs		regulator of G-protein signaling 12																																				SO:0001589	frameshift_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3430398_3430399insA	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3534dupA	4.37:g.3430407_3430407dupA	ENSP00000339381:p.Lys1176fs					RGS12_ENST00000382788.3_Frame_Shift_Ins_p.GK1175fs|RGS12_ENST00000338806.4_Frame_Shift_Ins_p.GK527fs|RGS12_ENST00000344733.5_Frame_Shift_Ins_p.GK1175fs|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000538395.1_Intron	p.GK1175fs	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	16	4429_4430	+			1175					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Frame_Shift_Ins	INS	ENST00000344733.5	37	c.3525_3526insA	CCDS3366.1																																																																																				0.332	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		8	331						8	331	---	---	---	---
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815895	+	lincRNA	DEL	A	A	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:19815895delA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaa	0.413																																						ENST00000511431.1																			0																																																			0							g.chr4:19815895delA																													4.37:g.19815895delA														0	288	+									RNA	DEL	ENST00000511431.1	37																																																																																						0.413	RP11-608O21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359397.1			12	50						12	50	---	---	---	---
KLF3	51274	broad.mit.edu	37	4	38691476	38691476	+	Frame_Shift_Del	DEL	C	C	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:38691476delC	ENST00000261438.5	+	4	976	c.671delC	c.(670-672)tccfs	p.S224fs	KLF3_ENST00000514033.1_Frame_Shift_Del_p.S224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	224	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AACTCAGTGTCCCCCCCGCAA	0.423																																						ENST00000261438.5																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						c.(670-672)tcfs		Kruppel-like factor 3 (basic)							137.0	129.0	132.0					4																	38691476		2203	4300	6503	SO:0001589	frameshift_variant	51274				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:38691476delC	AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.671delC	4.37:g.38691476delC	ENSP00000261438:p.Ser224fs					KLF3_ENST00000514033.1_Frame_Shift_Del_p.S224fs	p.S224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN			4	976	+			224			Pro-rich.		Q6PIR1|Q86TN0|Q9P2X6	Frame_Shift_Del	DEL	ENST00000261438.5	37	c.671delC	CCDS3444.1																																																																																				0.423	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			8	887						8	887	---	---	---	---
ALPK1	80216	broad.mit.edu	37	4	113356393	113356393	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:113356393delA	ENST00000458497.1	+	12	3403	c.3124delA	c.(3124-3126)aaafs	p.K1043fs	ALPK1_ENST00000177648.9_Frame_Shift_Del_p.K1043fs|ALPK1_ENST00000504176.2_Frame_Shift_Del_p.K965fs	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1043	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GACTGTGAAGAAAAAAGGCAG	0.348																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(3124-3126)aafs		alpha-kinase 1			,	1,4265		0,1,2132	146.0	173.0	164.0		,	4.2	1.0	4		164	0,8250		0,0,4125	no	frameshift,frameshift	ALPK1	NM_025144.3,NM_001102406.1	,	0,1,6257	A1A1,A1R,RR		0.0,0.0234,0.0080	,	,	113356393	1,12515	2203	4300	6503	SO:0001589	frameshift_variant	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113356393delA	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3124delA	4.37:g.113356393delA	ENSP00000398048:p.Lys1043fs					ALPK1_ENST00000177648.9_Frame_Shift_Del_p.K1043fs|ALPK1_ENST00000504176.2_Frame_Shift_Del_p.K965fs	p.K1043fs	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	12	3403	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	1043			Alpha-type protein kinase.		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Frame_Shift_Del	DEL	ENST00000458497.1	37	c.3124delA	CCDS3697.1																																																																																				0.348	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		7	1054						7	1054	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:134073569_134073571delCTG	ENST00000264360.5	+	1	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctctgc>ctc	p.C763del		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	763	Cys-rich.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2272-2277)ctc>ct		protocadherin 10																																				SO:0001651	inframe_deletion	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073569_134073571delCTG	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2274_2276delCTG	4.37:g.134073578_134073580delCTG	ENSP00000264360:p.Cys763del						p.LC758del	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3100_3102	+			758			Cys-rich.		Q4W5F6|Q96SF0	In_Frame_Del	DEL	ENST00000264360.5	37	c.2274_2276delCTG	CCDS34063.1																																																																																				0.581	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		10	301						10	301	---	---	---	---
SPOCK3	50859	broad.mit.edu	37	4	168155291	168155292	+	Frame_Shift_Del	DEL	CA	CA	-	rs557659762		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:168155291_168155292delCA	ENST00000357154.3	-	2	170_171	c.33_34delTG	c.(31-36)tgtgcafs	p.A14fs	SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000510741.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000511531.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000504953.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000512648.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000512681.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000421836.2_5'UTR|SPOCK3_ENST00000357545.4_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000502330.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000534949.1_5'Flank|SPOCK3_ENST00000506886.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000535728.1_5'Flank|SPOCK3_ENST00000511269.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000541637.1_Frame_Shift_Del_p.A14fs	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	14					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CAAGCGGCTGCACACACACACA	0.609																																						ENST00000357154.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(31-36)tgcafs		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3																																				SO:0001589	frameshift_variant	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:168155291_168155292delCA	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.33_34delTG	4.37:g.168155301_168155302delCA	ENSP00000349677:p.Ala14fs					SPOCK3_ENST00000510741.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000502330.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000504953.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000357545.4_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000511531.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000512681.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000421836.2_5'UTR|SPOCK3_ENST00000541637.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000506886.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000511269.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000512648.1_Frame_Shift_Del_p.CA11fs	p.CA11fs	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	2	170_171	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	11					B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Frame_Shift_Del	DEL	ENST00000357154.3	37	c.33_34delTG	CCDS54817.1																																																																																				0.609	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			8	209						8	209	---	---	---	---
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacacfs	p.H529fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	759					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1582-1587)aaacfs		PAP associated domain containing 7																																				SO:0001589	frameshift_variant	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6755013_6755014delAC	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1584_1585delAC	5.37:g.6755023_6755024delAC	ENSP00000230859:p.His529fs						p.KH528fs	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			13	1713_1714	+			528					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Frame_Shift_Del	DEL	ENST00000230859.6	37	c.1584_1585delAC	CCDS3871.1																																																																																				0.653	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		8	304						8	304	---	---	---	---
THBS4	7060	broad.mit.edu	37	5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			9	1116						9	1116	---	---	---	---
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304																																						ENST00000316788.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12						c.(121-126)gafs		adaptor-related protein complex 3, sigma 1 subunit																																				SO:0001589	frameshift_variant	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115202418_115202421delAAGA	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.121_124delAAGA	5.37:g.115202418_115202421delAAGA	ENSP00000325369:p.Lys41fs						p.KR41fs	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	2	678_681	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	41					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Frame_Shift_Del	DEL	ENST00000316788.7	37	c.121_124delAAGA	CCDS4123.1																																																																																				0.304	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2			18	240						18	240	---	---	---	---
ANKHD1	54882	broad.mit.edu	37	5	139905676	139905676	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:139905676delA	ENST00000360839.2	+	26	4742	c.4588delA	c.(4588-4590)aaafs	p.K1531fs	SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000544120.1_5'Flank|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|ANKHD1_ENST00000297183.6_Frame_Shift_Del_p.K1531fs	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1531						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTTTGGGAAAAAAAGGGC	0.423																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(4588-4590)aafs		ankyrin repeat and KH domain containing 1							133.0	145.0	141.0					5																	139905676		2203	4300	6503	SO:0001589	frameshift_variant	54882							g.chr5:139905676delA	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4588delA	5.37:g.139905676delA	ENSP00000354085:p.Lys1531fs					ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs	p.K1531fs	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		26	4712	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Frame_Shift_Del	DEL	ENST00000360839.2	37	c.4588delA	CCDS4225.1																																																																																				0.423	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		9	742						9	742	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149216457	149216459	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:149216457_149216459delGGA	ENST00000309241.5	+	8	2471_2473	c.2439_2441delGGA	c.(2437-2442)ggggag>ggg	p.E818del	PPARGC1B_ENST00000394320.3_In_Frame_Del_p.E818del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.E779del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.E754del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	818	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaagaaggggaggaggaggag	0.606																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2437-2442)ggg>gg		peroxisome proliferator-activated receptor gamma, coactivator 1 beta																																				SO:0001651	inframe_deletion	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216457_149216459delGGA	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2439_2441delGGA	5.37:g.149216466_149216468delGGA	ENSP00000312649:p.Glu818del					PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del	p.GE813del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2471_2473	+			813			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	In_Frame_Del	DEL	ENST00000309241.5	37	c.2439_2441delGGA	CCDS4298.1																																																																																				0.606	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		11	432						11	432	---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154181822	154181822	+	Frame_Shift_Del	DEL	G	G	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:154181822delG	ENST00000336314.4	+	11	1765	c.1741delG	c.(1741-1743)gggfs	p.G582fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	659					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCGGCACCCAGGGGGGGACCG	0.547																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1741-1743)ggfs		La ribonucleoprotein domain family, member 1							79.0	76.0	77.0					5																	154181822		2203	4300	6503	SO:0001589	frameshift_variant	23367						protein binding|RNA binding	g.chr5:154181822delG	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1741delG	5.37:g.154181822delG	ENSP00000336721:p.Gly582fs						p.G582fs	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		11	1765	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	659					O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Del	DEL	ENST00000336314.4	37	c.1741delG	CCDS4328.1																																																																																				0.547	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		8	553						8	553	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708697	180708698	+	lincRNA	INS	-	-	A	rs1815381|rs57699261		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:180708697_180708698insA	ENST00000412295.2	+	0	238																											ggggcggtaggcgggggctgga	0.718																																						ENST00000412295.2																			0																																																			0							g.chr5:180708697_180708698insA																													5.37:g.180708697_180708698insA														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.718	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			14	76						14	76	---	---	---	---
MAS1L	116511	broad.mit.edu	37	6	29455156	29455157	+	Frame_Shift_Del	DEL	AC	AC	-	rs200721788|rs146992654|rs372287572|rs577687250	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:29455156_29455157delAC	ENST00000377127.3	-	1	581_582	c.523_524delGT	c.(523-525)gtcfs	p.V175fs		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	175					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGGGAAGAGGACACACACACAC	0.495														7	0.00139776	0.0045	0.0	5008	,	,		21251	0.0		0.0	False		,,,				2504	0.001				NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(523-525)cfs		MAS1 oncogene-like				52,4210		1,50,2080						-4.7	0.0		dbSNP_134	66	110,8144		1,108,4018	yes	frameshift	MAS1L	NM_052967.1		2,158,6098	A1A1,A1R,RR		1.3327,1.2201,1.2943				162,12354				SO:0001589	frameshift_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455156_29455157delAC	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.523_524delGT	6.37:g.29455166_29455167delAC	ENSP00000366331:p.Val175fs						p.V175fs	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	581_582	-			175					Q5SUN5	Frame_Shift_Del	DEL	ENST00000377127.3	37	c.523_524delGT	CCDS4661.1																																																																																				0.495	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		8	376						8	376	---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-	rs368201041		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)ctgdel	p.L783del	GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000376977.3_3'UTR	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.L783M(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GGAAGATTCCCAGCAGCAGCAGC	0.512																																						ENST00000377034.4																			1	Substitution - Missense(1)	p.L783M(1)	kidney(1)	endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2347-2349)del		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)																																			SO:0001651	inframe_deletion	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29573436_29573438delCAG	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2347_2349delCTG	6.37:g.29573445_29573447delCAG	ENSP00000366233:p.Leu783del					GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del	p.L783del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			20	2682_2684	-			783					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	In_Frame_Del	DEL	ENST00000377034.4	37	c.2347_2349delCTG	CCDS4663.1																																																																																				0.512	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			10	411						10	411	---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30570264	30570266	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:30570264_30570266delGGA	ENST00000376511.2	-	19	2712_2714	c.2160_2162delTCC	c.(2158-2163)cctcca>cca	p.720_721PP>P		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	720	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCCTCGGAATggaggaggaggag	0.67																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(2158-2163)cca>cc		protein phosphatase 1, regulatory subunit 10				21,3195		2,17,1589						-7.6	0.5			35	55,6059		6,43,3008	no	coding	PPP1R10	NM_002714.2		8,60,4597	A1A1,A1R,RR		0.8996,0.653,0.8146				76,9254				SO:0001651	inframe_deletion	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30570264_30570266delGGA	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2160_2162delTCC	6.37:g.30570273_30570275delGGA	ENSP00000365694:p.Pro721del						p.PP720del	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			19	2712_2714	-			720			Gly-rich.		O00405	In_Frame_Del	DEL	ENST00000376511.2	37	c.2160_2162delTCC	CCDS4681.1																																																																																				0.670	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		8	348						8	348	---	---	---	---
PPP1R18	170954	broad.mit.edu	37	6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_In_Frame_Del_p.100_101QQ>Q|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	100	Poly-Gln.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.65																																						ENST00000274853.3																			1	Substitution - coding silent(1)	p.Q100Q(1)	large_intestine(1)								c.(298-303)caa>ca		protein phosphatase 1, regulatory subunit 18			,	3,113,6,2396		0,0,0,3,5,0,103,1,4,1143					,	0.5	0.9		dbSNP_130	42	2,260,1,5209		0,0,0,2,9,0,242,0,1,2482	no	codingComplex,codingComplex	KIAA1949	NM_133471.3,NM_001134870.1	,	0,0,0,5,14,0,345,1,5,3625	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8063,4.8451,4.8185	,	,		5,373,7,7605				SO:0001651	inframe_deletion	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653494_30653496delTGC	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.300_302delGCA	6.37:g.30653503_30653505delTGC	ENSP00000274853:p.Gln103del					PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del	p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2176_2178	-			102			Poly-Gln.		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	In_Frame_Del	DEL	ENST00000274853.3	37	c.300_302delGCA	CCDS43444.1																																																																																				0.650	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		16	459						16	459	---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A	rs145334816		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4549-4551)aaafs		tudor domain containing 6																																				SO:0001589	frameshift_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660414_46660415insA	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs					TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4803_4804	+			1517					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	c.4549_4550insA	CCDS34470.1																																																																																				0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		9	353						9	353	---	---	---	---
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:52883129delT	ENST00000350082.5	-	7	1008	c.662delA	c.(661-663)aag>ag	p.K221fs	ICK_ENST00000356971.3_Splice_Site_p.K221fs	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502																																						ENST00000356971.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31						c.e8+1		intestinal cell (MAK-like) kinase							184.0	185.0	184.0					6																	52883129		2203	4300	6503	SO:0001630	splice_region_variant	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52883129delT	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.663+1A>-	6.37:g.52883129delT						ICK_ENST00000350082.5_Splice_Site_p.K221_splice	p.K221_splice	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN			8	1151	-	Lung NSC(77;0.103)		221			Protein kinase.		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Splice_Site	DEL	ENST00000350082.5	37	c.663_splice	CCDS4949.1																																																																																				0.502	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513	Frame_Shift_Del	11	1156						11	1156	---	---	---	---
OLIG3	167826	broad.mit.edu	37	6	137815210	137815212	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:137815210_137815212delTGG	ENST00000367734.2	-	1	319_321	c.96_98delCCA	c.(94-99)caccag>cag	p.H32del		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	32	Poly-His.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.Q33K(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ACGGCTCTCCtggtggtggtggt	0.596																																						ENST00000367734.2																			1	Substitution - Missense(1)	p.Q33K(1)	ovary(1)	endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(94-99)cag>ca		oligodendrocyte transcription factor 3																																				SO:0001651	inframe_deletion	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815210_137815212delTGG	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.96_98delCCA	6.37:g.137815219_137815221delTGG	ENSP00000356708:p.His32del						p.HQ32del	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	319_321	-	Breast(32;0.165)|Colorectal(23;0.24)		32			Poly-His.		Q8N8Q0	In_Frame_Del	DEL	ENST00000367734.2	37	c.96_98delCCA	CCDS5186.1																																																																																				0.596	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		7	555						7	555	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:155743925_155743926delCA	ENST00000159060.2	-	10	1312_1313	c.1210_1211delTG	c.(1210-1212)tgcfs	p.C404fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	404					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.53																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(1210-1212)cfs		NADPH oxidase 3																																				SO:0001589	frameshift_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155743925_155743926delCA	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1210_1211delTG	6.37:g.155743933_155743934delCA	ENSP00000159060:p.Cys404fs						p.C404fs	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	10	1312_1313	-		Breast(66;0.0183)	404					Q9HBJ9	Frame_Shift_Del	DEL	ENST00000159060.2	37	c.1210_1211delTG	CCDS5250.1																																																																																				0.530	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			8	773						8	773	---	---	---	---
PDE10A	10846	broad.mit.edu	37	6	165844962	165844963	+	Splice_Site	INS	-	-	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:165844962_165844963insA	ENST00000366882.1	-	9	818		c.e9-2		PDE10A_ENST00000354448.4_Splice_Site|PDE10A_ENST00000539869.2_Splice_Site			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A						blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TGTTGCAACCTAAAAAAAACAA	0.327																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.e9-2		phosphodiesterase 10A	Dipyridamole(DB00975)																																			SO:0001630	splice_region_variant	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165844962_165844963insA	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.664-2->T	6.37:g.165844970_165844970dupA						PDE10A_ENST00000539869.2_Splice_Site|PDE10A_ENST00000354448.4_Splice_Site				Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	9	818	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)						Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Splice_Site	INS	ENST00000366882.1	37																																																																																						0.327	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1		Intron	7	411						7	411	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151|rs3779607	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0.0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		17	182						17	182	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5430009	5430011	+	Intron	DEL	AAG	AAG	-	rs34840801|rs368909449|rs377539951|rs373103246		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:5430009_5430011delAAG	ENST00000430969.1	-	4	836				TNRC18_ENST00000399537.4_Intron|TNRC18_ENST00000399434.2_In_Frame_Del_p.L124del	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18								chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		aaaaaaaaaaaaGCCAGCATCCT	0.547																																						ENST00000399434.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(370-372)del		trinucleotide repeat containing 18																																				SO:0001627	intron_variant	84629						DNA binding	g.chr7:5430009_5430011delAAG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.487+104CTT>-	7.37:g.5430009_5430011delAAG						TNRC18_ENST00000430969.1_Intron|TNRC18_ENST00000399537.4_Intron	p.L124del			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	3	528_530	-		Ovarian(82;0.142)	0					A8MX41|Q96JH1|Q96K91	In_Frame_Del	DEL	ENST00000430969.1	37	c.370_372delCTT	CCDS47534.1																																																																																				0.547	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				9	82						9	82	---	---	---	---
HOXA11	3207	broad.mit.edu	37	7	27222461	27222462	+	Frame_Shift_Ins	INS	-	-	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:27222461_27222462insT	ENST00000006015.3	-	2	966_967	c.895_896insA	c.(895-897)attfs	p.I299fs	HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000522674.1_RNA|RP1-170O19.20_ENST00000470747.4_5'Flank|HOXA10_ENST00000396344.4_5'Flank|HOXA11-AS_ENST00000520360.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	299					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GTCTCTGTTAATTTTTTTTTCC	0.446			T	NUP98	CML																																	ENST00000006015.3				Dom	yes		7	7p15-p14.2	3207	T	homeo box A11			L	NUP98		CML		0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						c.(895-897)taafs		homeobox A11																																				SO:0001589	frameshift_variant	3207				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27222461_27222462insT		CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.896dupA	7.37:g.27222470_27222470dupT	ENSP00000006015:p.Ile299fs						p.*299fs	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN			2	966_967	-			299					A4D190	Frame_Shift_Ins	INS	ENST00000006015.3	37	c.895_896insA	CCDS5411.1																																																																																				0.446	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1			11	538						11	538	---	---	---	---
GARS	2617	broad.mit.edu	37	7	30634583	30634585	+	In_Frame_Del	DEL	CTG	CTG	-	rs150213018		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:30634583_30634585delCTG	ENST00000389266.3	+	1	287_289	c.46_48delCTG	c.(46-48)ctgdel	p.L20del	AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000581665.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	20					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCGCGCCGCTCTGCTGCTGCTGC	0.749																																						ENST00000389266.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.(46-48)del		glycyl-tRNA synthetase	Glycine(DB00145)			181,3387		9,163,1612						-3.2	0.0		dbSNP_134	8	497,6929		13,471,3229	no	coding	GARS	NM_002047.2		22,634,4841	A1A1,A1R,RR		6.6927,5.0729,6.167				678,10316				SO:0001651	inframe_deletion	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30634583_30634585delCTG	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.46_48delCTG	7.37:g.30634592_30634594delCTG	ENSP00000373918:p.Leu20del						p.L20del	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			1	287_289	+			20					B3KQA2|B4DIA0|Q969Y1	In_Frame_Del	DEL	ENST00000389266.3	37	c.46_48delCTG	CCDS43564.1																																																																																				0.749	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		8	144						8	144	---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97820131	97820132	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:97820131_97820132delAG	ENST00000297293.5	+	10	1383_1384	c.1090_1091delAG	c.(1090-1092)agafs	p.R364fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	364	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCAAGTCATTAGAGAGAGAGAC	0.495																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1090-1092)afs		lemur tyrosine kinase 2																																				SO:0001589	frameshift_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97820131_97820132delAG	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1090_1091delAG	7.37:g.97820139_97820140delAG	ENSP00000297293:p.Arg364fs						p.R364fs	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			10	1383_1384	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		364			Protein kinase.		A4D272|Q75MG7|Q9UPS3	Frame_Shift_Del	DEL	ENST00000297293.5	37	c.1090_1091delAG	CCDS5654.1																																																																																				0.495	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		9	1264						9	1264	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:100284335_100284337delCCT	ENST00000275732.5	-	7	1838_1840	c.629_631delAGG	c.(628-633)gagggc>ggc	p.E210del	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	210	Poly-Glu.				insulin-like growth factor receptor signaling pathway (GO:0048009)			p.E210delE(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCAGCTGCcctcctcctcctc	0.7																																						ENST00000275732.5																			1	Deletion - In frame(1)	p.E210delE(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(628-633)ggc>g		GRB10 interacting GYF protein 1				14,2,4238		0,0,14,0,2,2111						5.0	1.0			29	36,2,8190		0,0,36,0,2,4076	no	codingComplex	GIGYF1	NM_022574.4		0,0,50,0,4,6187	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4618,0.3761,0.4326				50,4,12428				SO:0001651	inframe_deletion	64599							g.chr7:100284335_100284337delCCT	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.629_631delAGG	7.37:g.100284344_100284346delCCT	ENSP00000275732:p.Glu210del					GIGYF1_ENST00000471340.2_Intron	p.EG210del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			7	1838_1840	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		210			Poly-Glu.		Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.629_631delAGG	CCDS34708.1																																																																																				0.700	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		7	424						7	424	---	---	---	---
TRBV7-8	28590	broad.mit.edu	37	7	142099805	142099806	+	RNA	DEL	AC	AC	-	rs368401262		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:142099805_142099806delAC	ENST00000390359.3	-	0	88									T cell receptor beta variable 7-8																		TAGTCATcatacacacacacac	0.441																																						ENST00000390359.3																			0																	1150,504,192,73,32,19,1642		93,271,69,34,0,6,584,12,24,19,0,2,164,6,1,0,1,85,0,0,0,19,5,0,22,2,6,381						-3.9	0.0		dbSNP_134	72	454,34,630,2,192,56,6534		14,14,43,0,0,6,363,1,6,0,0,0,12,12,1,0,4,552,0,0,0,1,3,0,186,1,44,2688	no	intergenic				107,285,112,34,0,12,947,13,30,19,0,2,176,18,2,0,5,637,0,0,0,20,8,0,208,3,50,3069	A1A1,A1A2,A1A3,A1A4,A1A5,A1A6,A1R,A2A2,A2A3,A2A4,A2A5,A2A6,A2R,A3A3,A3A4,A3A5,A3A6,A3R,A4A4,A4A5,A4A6,A4R,A5A5,A5A6,A5R,A6A6,A6R,RR		17.3121,54.5404,28.9908				1604,538,822,75,224,75,8176						0							g.chr7:142099805_142099806delAC	M11953		7q34	2012-02-07			ENSG00000229200			"""T cell receptors / TRB locus"""	12242	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV78, TCRBV6S2A1N1T, TCRBV7S8			OTTHUMG00000158875		7.37:g.142099815_142099816delAC														0	88	-									RNA	DEL	ENST00000390359.3	37																																																																																						0.441	TRBV7-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352483.1	NG_001333		11	261						11	261	---	---	---	---
TRBV6-5	28602	broad.mit.edu	37	7	142180819	142180821	+	RNA	DEL	AGG	AGG	-	rs369065333|rs146925843|rs377067235		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:142180819_142180821delAGG	ENST00000390368.2	-	0	115									T cell receptor beta variable 6-5																		CCTGCAGAGAAGGAGAACAAAGC	0.557																																						ENST00000390368.2																			0																																																			0							g.chr7:142180819_142180821delAGG	L36092		7q34	2012-02-07			ENSG00000211721	ENSG00000211721		"""T cell receptors / TRB locus"""	12230	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV65, TCRBV13S1, TCRBV6S5			OTTHUMG00000158519		7.37:g.142180819_142180821delAGG														0	115	-									RNA	DEL	ENST00000390368.2	37																																																																																						0.557	TRBV6-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351225.1	NG_001333		12	435						12	435	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142481743	142481745	+	RNA	DEL	CTA	CTA	-	rs587750077|rs376315825	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:142481743_142481745delCTA	ENST00000603901.1	+	0	454					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ACCCACATTTCTACTTTCTTTAT	0.517																																						ENST00000603901.1																			0																																																			0							g.chr7:142481743_142481745delCTA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481743_142481745delCTA								NR_001296.3						0	454	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.517	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		15	246						15	246	---	---	---	---
ESCO2	157570	broad.mit.edu	37	8	27634576	27634577	+	Frame_Shift_Ins	INS	-	-	A	rs80359854|rs80359853		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:27634576_27634577insA	ENST00000305188.8	+	3	989_990	c.751_752insA	c.(751-753)gaafs	p.E251fs	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	251					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GACTGTCAGTGAAAAAAAAACT	0.396									SC Phocomelia syndrome																													ENST00000305188.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	GRCh37	CI054453	ESCO2	I	rs80359852	c.(751-753)aaafs		establishment of sister chromatid cohesion N-acetyltransferase 2																																				SO:0001589	frameshift_variant	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27634576_27634577insA	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.760dupA	8.37:g.27634585_27634585dupA	ENSP00000306999:p.Glu251fs					ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	p.K251fs	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	3	989_990	+		Ovarian(32;0.000953)	251					B3KW59|Q49AP4	Frame_Shift_Ins	INS	ENST00000305188.8	37	c.751_752insA	CCDS34872.1																																																																																				0.396	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		8	284						8	284	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35608248	35608248	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:35608248delT	ENST00000404895.2	+	13	2412	c.2084delT	c.(2083-2085)gttfs	p.V695fs	UNC5D_ENST00000453357.2_Frame_Shift_Del_p.V690fs|UNC5D_ENST00000449677.1_Frame_Shift_Del_p.V271fs|UNC5D_ENST00000287272.2_Frame_Shift_Del_p.V626fs|UNC5D_ENST00000416672.1_Frame_Shift_Del_p.V700fs|UNC5D_ENST00000420357.1_Frame_Shift_Del_p.V628fs	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	695					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AAGGTGGCGGTTTTTGGCTGC	0.488																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(1876-1878)gtfs		unc-5 homolog D (C. elegans)							237.0	200.0	213.0					8																	35608248		2203	4300	6503	SO:0001589	frameshift_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35608248delT	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2084delT	8.37:g.35608248delT	ENSP00000385143:p.Val695fs					UNC5D_ENST00000404895.2_Frame_Shift_Del_p.V695fs|UNC5D_ENST00000416672.1_Frame_Shift_Del_p.V700fs|UNC5D_ENST00000449677.1_Frame_Shift_Del_p.V271fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.V690fs|UNC5D_ENST00000420357.1_Frame_Shift_Del_p.V628fs	p.V626fs			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	12	1897	+			695			ZU5.		Q8WYP7	Frame_Shift_Del	DEL	ENST00000404895.2	37	c.1877delT	CCDS6093.2																																																																																				0.488	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			9	846						9	846	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(8107-8109)ggfs	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							248.0	251.0	250.0					8																	48746799		1981	4176	6157	SO:0001589	frameshift_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48746799delT		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8107delA	8.37:g.48746799delT	ENSP00000313420:p.Arg2703fs					PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR	p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			60	8163	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2704			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	ENST00000314191.2	37	c.8107delA																																																																																					0.498	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		7	1692						7	1692	---	---	---	---
ZC3H3	23144	broad.mit.edu	37	8	144522387	144522389	+	In_Frame_Del	DEL	GAG	GAG	-	rs2272753|rs2272754	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:144522387_144522389delGAG	ENST00000262577.5	-	11	2668_2670	c.2637_2639delCTC	c.(2635-2640)tcctca>tca	p.879_880SS>S		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	879	Poly-Ser.				mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			Gggaggggatgaggaggaggagg	0.655																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2635-2640)tca>tc		zinc finger CCCH-type containing 3																																				SO:0001651	inframe_deletion	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144522387_144522389delGAG	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2637_2639delCTC	8.37:g.144522396_144522398delGAG	ENSP00000262577:p.Ser881del						p.SS879del	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		11	2668_2670	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		879			Poly-Ser.		Q14163|Q8N4E2|Q9BUS4	In_Frame_Del	DEL	ENST00000262577.5	37	c.2637_2639delCTC	CCDS6402.1																																																																																				0.655	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		8	78						8	78	---	---	---	---
PTPLAD2	401494	broad.mit.edu	37	9	21007046	21007046	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr9:21007046delT	ENST00000495827.2	-	7	734	c.689delA	c.(688-690)aagfs	p.K231fs	PTPLAD2_ENST00000513293.2_Frame_Shift_Del_p.K231fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	231	Poly-Lys.				fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TCACATCTTCTTTTTTTTAAT	0.368																																						ENST00000495827.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(688-690)agfs		protein tyrosine phosphatase-like A domain containing 2							142.0	125.0	130.0					9																	21007046		1830	4094	5924	SO:0001589	frameshift_variant	401494				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity	g.chr9:21007046delT		CCDS43791.1	9p21.3	2008-02-05			ENSG00000188921	ENSG00000188921			20920	protein-coding gene	gene with protein product		615941					Standard	NM_001010915		Approved	Em:AL662879.1, OTTHUMG00000021016	uc010mir.1	Q5VWC8	OTTHUMG00000021016	ENST00000495827.2:c.689delA	9.37:g.21007046delT	ENSP00000419503:p.Lys231fs					PTPLAD2_ENST00000513293.2_Frame_Shift_Del_p.K231fs	p.K231fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN		Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)	7	734	-			231			Poly-Lys.		Q7Z385	Frame_Shift_Del	DEL	ENST00000495827.2	37	c.689delA	CCDS43791.1																																																																																				0.368	PTPLAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055434.3	NM_001010915		7	337						7	337	---	---	---	---
FNBP1	23048	broad.mit.edu	37	9	132687243	132687243	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr9:132687243delT	ENST00000446176.2	-	9	1169	c.983delA	c.(982-984)aatfs	p.N328fs	FNBP1_ENST00000420781.1_Frame_Shift_Del_p.N328fs|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000355681.3_Frame_Shift_Del_p.N328fs	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	328	Interaction with microtubules. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CAGTACCTTATTTTTTTTGAT	0.378			T	MLL	AML																																	ENST00000420781.1				Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		0											c.(982-984)atfs		formin binding protein 1							101.0	98.0	99.0					9																	132687243		1840	4101	5941	SO:0001589	frameshift_variant	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132687243delT	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.983delA	9.37:g.132687243delT	ENSP00000413625:p.Asn328fs					FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000355681.3_Frame_Shift_Del_p.N328fs|FNBP1_ENST00000446176.2_Frame_Shift_Del_p.N328fs	p.N328fs			Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	9	1201	-		Ovarian(14;0.000536)	328			Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Frame_Shift_Del	DEL	ENST00000446176.2	37	c.983delA	CCDS48040.1																																																																																				0.378	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			8	88						8	88	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24822125	24822127	+	In_Frame_Del	DEL	GAA	GAA	-	rs140819336	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:24822125_24822127delGAA	ENST00000376454.3	+	16	3403_3405	c.3373_3375delGAA	c.(3373-3375)gaadel	p.E1129del	KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376451.2_In_Frame_Del_p.E812del	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1129					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGATGAGGAGGAAGAAGAAGAAG	0.552														6	0.00119808	0.0008	0.0014	5008	,	,		21525	0.0		0.004	False		,,,				2504	0.0					ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2422-2424)del		KIAA1217			,,	28,4236		0,28,2104					,,	3.6	1.0		dbSNP_134	73	85,8169		0,85,4042	no	coding,coding,coding	KIAA1217	NM_019590.3,NM_001098501.1,NM_001098500.1	,,	0,113,6146	A1A1,A1R,RR		1.0298,0.6567,0.9027	,,	,,		113,12405				SO:0001651	inframe_deletion	56243				embryonic skeletal system development	cytoplasm		g.chr10:24822125_24822127delGAA	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3373_3375delGAA	10.37:g.24822134_24822136delGAA	ENSP00000365637:p.Glu1129del					KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del	p.E812del			Q5T5P2	SKT_HUMAN			11	2682_2684	+			1129					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	In_Frame_Del	DEL	ENST00000376454.3	37	c.2422_2424delGAA	CCDS31165.1																																																																																				0.552	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		9	319						9	319	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	GGC	-	rs12246234		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:55587198_55587200delGGC	ENST00000320301.6	-	32	4714_4716	c.4320_4322delGCC	c.(4318-4323)ccgcct>cct	p.1440_1441PP>P	PCDH15_ENST00000395433.1_In_Frame_Del_p.1415_1416PP>P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_In_Frame_Del_p.1447_1448PP>P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_In_Frame_Del_p.1400_1401PP>P|PCDH15_ENST00000395430.1_In_Frame_Del_p.1437_1438PP>P|PCDH15_ENST00000361849.3_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_In_Frame_Del_p.1369_1370PP>P|PCDH15_ENST00000409834.1_In_Frame_Del_p.1051_1052PP>P|PCDH15_ENST00000395445.1_In_Frame_Del_p.1447_1448PP>P|PCDH15_ENST00000395438.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_In_Frame_Del_p.1442_1443PP>P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1440	Poly-Pro.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4339-4344)cct>cc		protocadherin-related 15																																				SO:0001651	inframe_deletion	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587198_55587200delGGC	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4320_4322delGCC	10.37:g.55587207_55587209delGGC	ENSP00000322604:p.Pro1443del	HNSCC(58;0.16)				PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del	p.PP1449del	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4735_4737	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1442					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	In_Frame_Del	DEL	ENST00000320301.6	37	c.4341_4343delGCC	CCDS7248.1																																																																																				0.571	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		14	419						14	419	---	---	---	---
PDZD7	79955	broad.mit.edu	37	10	102789811	102789811	+	Frame_Shift_Del	DEL	G	G	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:102789811delG	ENST00000370215.3	-	2	391	c.166delC	c.(166-168)cgcfs	p.R56fs	PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs|SFXN3_ENST00000393459.1_5'Flank|SFXN3_ENST00000224807.5_5'Flank	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	56						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R56C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CGGATTCCGCGGGGGGGCCCG	0.667																																						ENST00000370215.3																			1	Substitution - Missense(1)	p.R56C(1)	breast(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(166-168)gcfs		PDZ domain containing 7							49.0	58.0	55.0					10																	102789811		2203	4300	6503	SO:0001589	frameshift_variant	79955					cilium|nucleus	protein binding	g.chr10:102789811delG	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.166delC	10.37:g.102789811delG	ENSP00000359234:p.Arg56fs					PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs	p.R56fs	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	2	391	-			56					D5FJ77|Q8N321	Frame_Shift_Del	DEL	ENST00000370215.3	37	c.166delC	CCDS31269.1																																																																																				0.667	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		12	759						12	759	---	---	---	---
WBP1L	54838	broad.mit.edu	37	10	104569669	104569671	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:104569669_104569671delCAT	ENST00000369889.4	+	3	292_294	c.150_152delCAT	c.(148-153)accatc>acc	p.I54del	WBP1L_ENST00000448841.1_In_Frame_Del_p.I75del	NM_017787.4	NP_060257.4	Q9NX94	WBP1L_HUMAN	WW domain binding protein 1-like	54						integral component of membrane (GO:0016021)											TGGTGTGGACCATCATCATCATC	0.606																																						ENST00000369889.4																			0											c.(148-153)acc>ac		WW domain binding protein 1-like																																				SO:0001651	inframe_deletion	54838					integral to membrane		g.chr10:104569669_104569671delCAT	AK056285	CCDS7540.1, CCDS44473.1	10q24.33	2012-05-02	2012-05-02	2012-05-02	ENSG00000166272	ENSG00000166272			23510	protein-coding gene	gene with protein product	"""outcome predictor in acute leukemia 1"""	611129	"""chromosome 10 open reading frame 26"""	C10orf26			Standard	NM_017787		Approved	FLJ20154, OPAL1	uc001kwf.4	Q9NX94	OTTHUMG00000018968	ENST00000369889.4:c.150_152delCAT	10.37:g.104569678_104569680delCAT	ENSP00000358905:p.Ile54del					WBP1L_ENST00000448841.1_In_Frame_Del_p.TI71del	p.TI50del	NM_017787.4	NP_060257.4	Q9NX94	OPA1L_HUMAN			3	292_294	+			50					B3KPF4|B7Z6S7|D3DR90|Q1EG70|Q2HIY7|Q5F2G6	In_Frame_Del	DEL	ENST00000369889.4	37	c.150_152delCAT	CCDS7540.1																																																																																				0.606	WBP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050100.1	NM_017787		9	1064						9	1064	---	---	---	---
CKAP5	9793	broad.mit.edu	37	11	46829683	46829683	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:46829683delT	ENST00000529230.1	-	8	922	c.876delA	c.(874-876)aaafs	p.K292fs	CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	292					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCTTGCCATTTTTTTGCCT	0.363																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(874-876)aafs		cytoskeleton associated protein 5							163.0	173.0	169.0					11																	46829683		2201	4299	6500	SO:0001589	frameshift_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46829683delT		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.876delA	11.37:g.46829683delT	ENSP00000432768:p.Lys292fs					CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs	p.K292fs			Q14008	CKAP5_HUMAN			8	922	-			292					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Frame_Shift_Del	DEL	ENST00000529230.1	37	c.876delA	CCDS31477.1																																																																																				0.363	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		7	949						7	949	---	---	---	---
MMP1	4312	broad.mit.edu	37	11	102668791	102668793	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:102668791_102668793delCAG	ENST00000315274.6	-	1	98_100	c.31_33delCTG	c.(31-33)ctgdel	p.L11del	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	11					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	CACCCCAGAACAGCAGCAGCAGC	0.498																																						ENST00000315274.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(31-33)del		matrix metallopeptidase 1 (interstitial collagenase)																																				SO:0001651	inframe_deletion	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102668791_102668793delCAG	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.31_33delCTG	11.37:g.102668800_102668802delCAG	ENSP00000322788:p.Leu11del					WTAPP1_ENST00000525739.2_RNA	p.L11del	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	1	98_100	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	11					P08156	In_Frame_Del	DEL	ENST00000315274.6	37	c.31_33delCTG	CCDS8322.1																																																																																				0.498	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		9	222						9	222	---	---	---	---
TMPRSS13	84000	broad.mit.edu	37	11	117789346	117789360	+	In_Frame_Del	DEL	CTGGAGATGCCCGGC	CTGGAGATGCCCGGC	-	rs199628947|rs550677468|rs377470726	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:117789346_117789360delCTGGAGATGCCCGGC	ENST00000430170.2	-	2	302_316	c.215_229delGCCGGGCATCTCCAG	c.(214-231)ggccgggcatctccagcc>gcc	p.GRASP72del	TMPRSS13_ENST00000528626.1_In_Frame_Del_p.GRASP72del|TMPRSS13_ENST00000526090.1_In_Frame_Del_p.GRASP72del|TMPRSS13_ENST00000524993.1_In_Frame_Del_p.GRASP72del|TMPRSS13_ENST00000445164.2_In_Frame_Del_p.GRASP72del	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	72	13 X 5 AA repeats of A-S-P-A-[GLQR].|Ala-rich.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GATGCCTGGGCTGGAGATGCCCGGCCTGGAGATGC	0.67																																						ENST00000528626.1																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20						c.(214-231)gcc>g		transmembrane protease, serine 13			,,	792,2818		6,780,1019					,,	1.0	0.0		dbSNP_129	45	2055,5781		4,2047,1867	no	coding,coding,coding	TMPRSS13	NM_001206790.1,NM_001206789.1,NM_001077263.2	,,	10,2827,2886	A1A1,A1R,RR		26.2251,21.9391,24.8733	,,	,,		2847,8599				SO:0001651	inframe_deletion	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117789346_117789360delCTGGAGATGCCCGGC	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.215_229delGCCGGGCATCTCCAG	11.37:g.117789346_117789360delCTGGAGATGCCCGGC	ENSP00000387702:p.Gly72_Pro76del					TMPRSS13_ENST00000430170.2_In_Frame_Del_p.GRASPA72del|TMPRSS13_ENST00000526090.1_In_Frame_Del_p.GRASPA72del|TMPRSS13_ENST00000445164.2_In_Frame_Del_p.GRASPA72del|TMPRSS13_ENST00000524993.1_In_Frame_Del_p.GRASPA72del	p.GRASPA72del	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	2	288_302	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	72			12 X 5 AA repeats of A-S-P-A-[GLQR].|Ala-rich.		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	In_Frame_Del	DEL	ENST00000430170.2	37	c.215_229delGCCGGGCATCTCCAG	CCDS58185.1																																																																																				0.670	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		7	510						7	510	---	---	---	---
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G	rs200755405		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:118629613_118629614insG	ENST00000526070.2	-	9	1225		c.e9-2		DDX6_ENST00000264018.4_Splice_Site|DDX6_ENST00000534980.1_Splice_Site	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.e9-2		DEAD (Asp-Glu-Ala-Asp) box helicase 6				28,3478		0,28,1725						5.8	1.0			104	55,7749		0,55,3847	no	splice-3	DDX6	NM_004397.4		0,83,5572	A1A1,A1R,RR		0.7048,0.7986,0.7339				83,11227				SO:0001630	splice_region_variant	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118629613_118629614insG	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.865-2->C	11.37:g.118629621_118629621dupG						DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000526070.2_Splice_Site		NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	9	1170	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)						Q5D048	Splice_Site	INS	ENST00000526070.2	37		CCDS44751.1																																																																																				0.426	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397	Intron	11	853						11	853	---	---	---	---
CHEK1	1111	broad.mit.edu	37	11	125505377	125505378	+	Frame_Shift_Ins	INS	-	-	A	rs35817404		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:125505377_125505378insA	ENST00000534070.1	+	7	922_923	c.667_668insA	c.(667-669)gaafs	p.E223fs	CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.E239fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.E223fs	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	223	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> V (in dbSNP:rs35817404). {ECO:0000269|PubMed:17344846}.		cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGACTGGAAAGAAAAAAAAACA	0.361								Other conserved DNA damage response genes																														ENST00000534070.1																			0				central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26						c.(667-669)aaafs	Other conserved DNA damage response genes	checkpoint kinase 1																																				SO:0001589	frameshift_variant	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125505377_125505378insA	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.676dupA	11.37:g.125505386_125505386dupA	ENSP00000435371:p.Glu223fs					CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K239fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K223fs	p.K223fs	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	7	922_923	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	223		E -> V (in dbSNP:rs35817404).	Protein kinase.		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Frame_Shift_Ins	INS	ENST00000534070.1	37	c.667_668insA	CCDS8459.1																																																																																				0.361	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		10	612						10	612	---	---	---	---
RECQL	5965	broad.mit.edu	37	12	21644546	21644547	+	Frame_Shift_Ins	INS	-	-	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:21644546_21644547insT	ENST00000444129.2	-	3	588_589	c.120_121insA	c.(118-123)aaagtcfs	p.V41fs	RECQL_ENST00000421138.2_Frame_Shift_Ins_p.V41fs	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	41					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.V41fs*2(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTTGTCAGGACTTTTTTTTTCT	0.381								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2																			1	Deletion - Frameshift(1)	p.V41fs*2(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(118-123)aatcctfs	Other identified genes with known or suspected DNA repair function	RecQ protein-like (DNA helicase Q1-like)			,	10,4254		0,10,2122					,	3.3	0.2			53	10,8244		0,10,4117	no	frameshift,frameshift	RECQL	NM_032941.2,NM_002907.3	,	0,20,6239	A1A1,A1R,RR		0.1212,0.2345,0.1598	,	,		20,12498				SO:0001589	frameshift_variant	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21644546_21644547insT	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.121dupA	12.37:g.21644555_21644555dupT	ENSP00000416739:p.Val41fs					RECQL_ENST00000421138.2_Frame_Shift_Ins_p.NP40fs	p.NP40fs	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN			3	588_589	-			40					A8K6G2	Frame_Shift_Ins	INS	ENST00000444129.2	37	c.120_121insA	CCDS31756.1																																																																																				0.381	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		7	266						7	266	---	---	---	---
MARS	4141	broad.mit.edu	37	12	57883053	57883053	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:57883053delT	ENST00000262027.5	+	3	338	c.204delT	c.(202-204)tatfs	p.Y68fs	MARS_ENST00000315473.5_5'UTR|MARS_ENST00000447721.2_Intron|ARHGAP9_ENST00000393797.2_5'Flank|ARHGAP9_ENST00000550288.1_5'Flank	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	68					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGGGCAGATATTTTTTTTTGT	0.488																																						ENST00000262027.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(202-204)tafs		methionyl-tRNA synthetase	L-Methionine(DB00134)						103.0	103.0	103.0					12																	57883053		2203	4300	6503	SO:0001589	frameshift_variant	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57883053delT	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.204delT	12.37:g.57883053delT	ENSP00000262027:p.Tyr68fs					MARS_ENST00000447721.2_Intron|MARS_ENST00000315473.5_5'UTR	p.Y68fs	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		3	338	+			68					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Frame_Shift_Del	DEL	ENST00000262027.5	37	c.204delT	CCDS8942.1																																																																																				0.488	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		9	318						9	318	---	---	---	---
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggtfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433																																						ENST00000266673.5																			0				large_intestine(1)|lung(8)	9						c.(991-993)ggfs		transmembrane protein 19							199.0	184.0	189.0					12																	72094757		2203	4300	6503	SO:0001589	frameshift_variant	55266					integral to membrane		g.chr12:72094757delT	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.993delT	12.37:g.72094757delT	ENSP00000266673:p.Gly331fs						p.G331fs	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	6	1587	+		Breast(359;0.0889)	331					B2RDL2|Q53FY3|Q9NV41	Frame_Shift_Del	DEL	ENST00000266673.5	37	c.993delT	CCDS9002.1																																																																																				0.433	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		11	857						11	857	---	---	---	---
DDX55	57696	broad.mit.edu	37	12	124103201	124103202	+	Intron	DEL	TG	TG	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:124103201_124103202delTG	ENST00000238146.4	+	12	1214				DDX55_ENST00000421670.3_De_novo_Start_InFrame|DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron|SNORA9_ENST00000384170.1_RNA	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GAATGTGGTATGTGTGTGTGTG	0.52											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000421670.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14								DEAD (Asp-Glu-Ala-Asp) box polypeptide 55																																				SO:0001627	intron_variant	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124103201_124103202delTG	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1165-14TG>-	12.37:g.124103211_124103212delTG			OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	DDX55_ENST00000538744.1_Intron|DDX55_ENST00000541259.1_Intron|DDX55_ENST00000238146.4_Intron				Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	0	639_640	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)							Q658L6|Q8IYH0|Q9HCH7	Translation_Start_Site	DEL	ENST00000238146.4	37		CCDS9251.1																																																																																				0.520	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			8	255						8	255	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133220099	133220100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:133220099_133220100delCA	ENST00000320574.5	-	34	4380_4381	c.4337_4338delTG	c.(4336-4338)gtgfs	p.V1447fs	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1447					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GTTTATTGACCACACACACACA	0.604								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4336-4338)gfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit																																				SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133220099_133220100delCA		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4337_4338delTG	12.37:g.133220109_133220110delCA	ENSP00000322570:p.Val1447fs					POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs	p.V1447fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	34	4380_4381	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1447					Q13533|Q86VH9	Frame_Shift_Del	DEL	ENST00000320574.5	37	c.4337_4338delTG	CCDS9278.1																																																																																				0.604	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		25	1220						25	1220	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25671273	25671273	+	Frame_Shift_Del	DEL	G	G	-	rs376589131		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr13:25671273delG	ENST00000281589.3	+	1	974	c.937delG	c.(937-939)gcgfs	p.A313fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	313	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTCCGGAAAGCGTTTTCTCC	0.408																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(937-939)cgfs		poly(A) binding protein, cytoplasmic 3							213.0	213.0	213.0					13																	25671273		2203	4300	6503	SO:0001589	frameshift_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671273delG	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.937delG	13.37:g.25671273delG	ENSP00000281589:p.Ala313fs						p.A313fs	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	974	+		Lung SC(185;0.0225)|Breast(139;0.0602)	313			RRM 4.		Q8NHV0|Q9H086	Frame_Shift_Del	DEL	ENST00000281589.3	37	c.937delG	CCDS9311.1																																																																																				0.408	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		17	1088						17	1088	---	---	---	---
TPTE2P2	644623	broad.mit.edu	37	13	52796688	52796688	+	RNA	DEL	C	C	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr13:52796688delC	ENST00000451298.1	-	0	1229				TPTE2P2_ENST00000606973.1_RNA																							cgctattgctccccacccatc	0.537																																						ENST00000451298.1																			0																																																			0							g.chr13:52796688delC																													13.37:g.52796688delC						RP11-64P12.8_ENST00000606031.1_RNA								0	1229	-									RNA	DEL	ENST00000451298.1	37																																																																																						0.537	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			9	72						9	72	---	---	---	---
FBXL3	26224	broad.mit.edu	37	13	77581683	77581683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr13:77581683delA	ENST00000355619.5	-	5	1208	c.884delT	c.(883-885)ttafs	p.L295fs	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	295					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.L295fs*3(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TTCTTCATATAAAAAAAAATA	0.418																																						ENST00000355619.5																			1	Insertion - Frameshift(1)	p.L295fs*3(1)	lung(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(883-885)tafs		F-box and leucine-rich repeat protein 3							72.0	73.0	72.0					13																	77581683		2203	4300	6503	SO:0001589	frameshift_variant	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581683delA	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.884delT	13.37:g.77581683delA	ENSP00000347834:p.Leu295fs					FBXL3_ENST00000477982.1_Intron	p.L295fs	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1208	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	295					B2RB04|Q9P122	Frame_Shift_Del	DEL	ENST00000355619.5	37	c.884delT	CCDS9457.1																																																																																				0.418	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			7	279						7	279	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086382	20086383	+	RNA	INS	-	-	AAAA	rs202177940		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr14:20086382_20086383insAAAA	ENST00000548261.1	+	0	135																											TCTTACAAGGTAAAAAAAATGA	0.312																																						ENST00000548261.1																			0																																																			0							g.chr14:20086382_20086383insAAAA																													14.37:g.20086387_20086390dupAAAA														0	135	+									RNA	INS	ENST00000548261.1	37																																																																																						0.312	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			11	64						11	64	---	---	---	---
NAA30	122830	broad.mit.edu	37	14	57858199	57858201	+	In_Frame_Del	DEL	AGG	AGG	-	rs370934750		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr14:57858199_57858201delAGG	ENST00000556492.1	+	2	678_680	c.524_526delAGG	c.(523-528)caggag>cag	p.E180del	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	180					metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						GGCACCGAGCAGGAGGAGGAGGA	0.675																																						ENST00000556492.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						c.(523-528)cag>c		N(alpha)-acetyltransferase 30, NatC catalytic subunit				23,1,4190		0,0,23,0,1,2083						-0.9	0.2			16	62,1,8111		2,0,58,0,1,4026	no	codingComplex	NAA30	NM_001011713.2		2,0,81,0,2,6109	A1A1,A1A2,A1R,A2A2,A2R,RR		0.7707,0.5695,0.7023				85,2,12301				SO:0001651	inframe_deletion	122830					cytoplasm	peptide alpha-N-acetyltransferase activity	g.chr14:57858199_57858201delAGG	AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	19844	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 35"", ""N-acetyltransferase 12"", ""N-acetyltransferase 12 (GCN5-related, putative)"""	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.524_526delAGG	14.37:g.57858208_57858210delAGG	ENSP00000452521:p.Glu180del					NAA30_ENST00000555166.1_Intron|NAA30_ENST00000554703.1_Intron	p.QE175del	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN			2	678_680	+			175					Q0IIN2	In_Frame_Del	DEL	ENST00000556492.1	37	c.524_526delAGG	CCDS32088.1																																																																																				0.675	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713		8	107						8	107	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)tccdel	p.S1468del	SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(4390-4392)del		signal-induced proliferation-associated 1 like 1																																				SO:0001651	inframe_deletion	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72190482_72190484delTCC	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4390_4392delTCC	14.37:g.72190491_72190493delTCC	ENSP00000450832:p.Ser1468del					SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del	p.S1468del	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	16	4738_4740	+			1468			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	In_Frame_Del	DEL	ENST00000555818.1	37	c.4390_4392delTCC	CCDS9807.1																																																																																				0.552	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		14	662						14	662	---	---	---	---
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	AG	-	rs150988201		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr14:73572607_73572608delAG	ENST00000261973.7	+	11	1480_1481	c.1195_1196delAG	c.(1195-1197)agafs	p.R399fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1195-1197)afs		RNA binding motif protein 25																																				SO:0001589	frameshift_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73572607_73572608delAG	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1195_1196delAG	14.37:g.73572617_73572618delAG	ENSP00000261973:p.Arg399fs					RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	11	1480_1481	+			399			Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Frame_Shift_Del	DEL	ENST00000261973.7	37	c.1195_1196delAG	CCDS32113.1																																																																																				0.446	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		7	141						7	141	---	---	---	---
CHGA	1113	broad.mit.edu	37	14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-	rs371215355|rs575196921	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)gagdel	p.E236del	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	236					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AAAGAGAgaagaggaggaggagg	0.645														31	0.0061901	0.0197	0.0029	5008	,	,		19158	0.001		0.0	False		,,,				2504	0.002				Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(685-687)del		chromogranin A (parathyroid secretory protein 1)																																				SO:0001651	inframe_deletion	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93397924_93397926delGAG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.685_687delGAG	14.37:g.93397933_93397935delGAG	ENSP00000216492:p.Glu236del					CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	p.E236del	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	6	965_967	+		all_cancers(154;0.0843)	236					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	In_Frame_Del	DEL	ENST00000216492.5	37	c.685_687delGAG	CCDS9906.1																																																																																				0.645	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		7	197						7	197	---	---	---	---
AKT1	207	broad.mit.edu	37	14	105242073	105242075	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr14:105242073_105242075delCTC	ENST00000554581.1	-	4	1829_1831	c.349_351delGAG	c.(349-351)gagdel	p.E117del	AKT1_ENST00000402615.2_In_Frame_Del_p.E117del|AKT1_ENST00000554848.1_In_Frame_Del_p.E117del|AKT1_ENST00000407796.2_In_Frame_Del_p.E117del|AKT1_ENST00000555528.1_In_Frame_Del_p.E117del|AKT1_ENST00000544168.1_In_Frame_Del_p.E55del|AKT1_ENST00000349310.3_In_Frame_Del_p.E117del|AKT1_ENST00000555458.1_5'Flank|AKT1_ENST00000554585.1_5'Flank|AKT1_ENST00000554192.1_5'Flank			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	117					activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	GGAAGTCCATCTCCTCCTCCTCC	0.631		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	ENST00000554581.1		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"""breast, colorectal, ovarian, NSCLC"""		0				NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(349-351)del		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)																																			SO:0001651	inframe_deletion	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105242073_105242075delCTC	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.349_351delGAG	14.37:g.105242082_105242084delCTC	ENSP00000451828:p.Glu117del					AKT1_ENST00000555528.1_In_Frame_Del_p.E117del|AKT1_ENST00000554848.1_In_Frame_Del_p.E117del|AKT1_ENST00000407796.2_In_Frame_Del_p.E117del|AKT1_ENST00000402615.2_In_Frame_Del_p.E117del|AKT1_ENST00000349310.3_In_Frame_Del_p.E117del|AKT1_ENST00000544168.1_In_Frame_Del_p.E55del	p.E117del			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	4	1829_1831	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	117					B2RAM5|B7Z5R1|Q9BWB6	In_Frame_Del	DEL	ENST00000554581.1	37	c.349_351delGAG	CCDS9994.1																																																																																				0.631	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		7	411						7	411	---	---	---	---
EMC7	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	EMC7_ENST00000532113.1_5'UTR|PGBD4_ENST00000397766.2_5'Flank	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		11	1049						11	1049	---	---	---	---
SRP14	6727	broad.mit.edu	37	15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-	rs371085676|rs377432895	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(346-348)del		signal recognition particle 14kDa (homologous Alu RNA binding protein)																																				SO:0001651	inframe_deletion	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328597_40328599delTGC		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"""signal recognition particle 14kD (homologous Alu RNA-binding protein)"""			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.346_348delGCA	15.37:g.40328606_40328608delTGC	ENSP00000267884:p.Ala116del					SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del	p.A116del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	417_419	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	116			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	ENST00000267884.6	37	c.346_348delGCA	CCDS42017.1																																																																																				0.478	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		10	301						10	301	---	---	---	---
MGA	23269	broad.mit.edu	37	15	42003383	42003385	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr15:42003383_42003385delCAG	ENST00000570161.1	+	7	2920_2922	c.2920_2922delCAG	c.(2920-2922)cagdel	p.Q981del	MGA_ENST00000219905.7_In_Frame_Del_p.Q981del|MGA_ENST00000566586.1_In_Frame_Del_p.Q981del|MGA_ENST00000545763.1_In_Frame_Del_p.Q981del|MGA_ENST00000389936.4_In_Frame_Del_p.Q981del			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCGGCAGGCACAGCAGCAGCAGC	0.458																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2920-2922)del		MGA, MAX dimerization protein																																				SO:0001651	inframe_deletion	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42003383_42003385delCAG	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2920_2922delCAG	15.37:g.42003392_42003394delCAG	ENSP00000457035:p.Gln981del					MGA_ENST00000389936.4_In_Frame_Del_p.Q981del|MGA_ENST00000570161.1_In_Frame_Del_p.Q981del|MGA_ENST00000566586.1_In_Frame_Del_p.Q981del|MGA_ENST00000545763.1_In_Frame_Del_p.Q981del	p.Q981del	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	8	3101_3103	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	981			Gln-rich.		Q0VAX6|Q75ME7|Q86UM5	In_Frame_Del	DEL	ENST00000570161.1	37	c.2920_2922delCAG	CCDS55959.1																																																																																				0.458	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		9	383						9	383	---	---	---	---
SLTM	79811	broad.mit.edu	37	15	59182525	59182526	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr15:59182525_59182526delTC	ENST00000380516.2	-	15	2120_2121	c.2033_2034delGA	c.(2032-2034)agafs	p.R678fs	SLTM_ENST00000536328.1_Frame_Shift_Del_p.R247fs|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	678	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGCGTTCCATTCTCTCTCTCTC	0.431																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2032-2034)afs		SAFB-like, transcription modulator																																				SO:0001589	frameshift_variant	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59182525_59182526delTC	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2033_2034delGA	15.37:g.59182535_59182536delTC	ENSP00000369887:p.Arg678fs					SLTM_ENST00000536328.1_Frame_Shift_Del_p.R247fs|AC025918.2_ENST00000452467.1_RNA	p.R678fs	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			15	2120_2121	-			678			Arg/Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Frame_Shift_Del	DEL	ENST00000380516.2	37	c.2033_2034delGA	CCDS10168.2																																																																																				0.431	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		8	746						8	746	---	---	---	---
ICE2	79664	broad.mit.edu	37	15	60745782	60745782	+	Frame_Shift_Del	DEL	A	A	-	rs181931922	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr15:60745782delA	ENST00000561114.1	-	9	1307	c.1145delT	c.(1144-1146)ttcfs	p.F382fs	NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron	NM_001276385.1	NP_001263314.1														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CCCTTAGGGGAAAAAAAAAGC	0.338																																						ENST00000561114.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1144-1146)tcfs		NMDA receptor regulated 2							50.0	51.0	51.0					15																	60745782		2203	4297	6500	SO:0001589	frameshift_variant	79664					nucleus		g.chr15:60745782delA																												ENST00000561114.1:c.1145delT	15.37:g.60745782delA	ENSP00000454162:p.Phe382fs					NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron	p.F382fs	NM_001276385.1	NP_001263314.1	Q659A1	NARG2_HUMAN			9	1307	-			0						Frame_Shift_Del	DEL	ENST00000561114.1	37	c.1145delT																																																																																					0.338	NARG2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000416605.1			8	207						8	207	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64972995	64972997	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr15:64972995_64972997delCAC	ENST00000326648.3	+	7	4224_4226	c.4096_4098delCAC	c.(4096-4098)cacdel	p.H1371del		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1371	Poly-His.					nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATGTCCACACACCACCACCACC	0.591																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(4096-4098)del		zinc finger protein 609				15,2,4245		0,0,15,0,2,2114						1.6	1.0			90	2,1,8249		0,0,2,0,1,4123	no	codingComplex	ZNF609	NM_015042.1		0,0,17,0,3,6237	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0364,0.3989,0.1598				17,3,12494				SO:0001651	inframe_deletion	23060					nucleus	zinc ion binding	g.chr15:64972995_64972997delCAC	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.4096_4098delCAC	15.37:g.64973004_64973006delCAC	ENSP00000316527:p.His1371del						p.H1371del	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			7	4224_4226	+			1371			Poly-His.		Q0D2I2	In_Frame_Del	DEL	ENST00000326648.3	37	c.4096_4098delCAC	CCDS32270.1																																																																																				0.591	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		8	820						8	820	---	---	---	---
MTFMT	123263	broad.mit.edu	37	15	65312612	65312613	+	Splice_Site	INS	-	-	A	rs368210383		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr15:65312612_65312613insA	ENST00000220058.4	-	5	659		c.e5-2		MTFMT_ENST00000561025.1_5'Flank	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase							mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	TGAAATGAGCTACAAAAAAAAA	0.381																																						ENST00000220058.4																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10						c.e5-2		mitochondrial methionyl-tRNA formyltransferase	Tetrahydrofolic acid(DB00116)																																			SO:0001630	splice_region_variant	123263					mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity	g.chr15:65312612_65312613insA	AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.646-2->T	15.37:g.65312613_65312613dupA								NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN			5	659	-								B7Z734	Splice_Site	INS	ENST00000220058.4	37		CCDS45280.1																																																																																				0.381	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242	Intron	7	106						7	106	---	---	---	---
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-	rs370680044		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr15:65918177_65918179delCTG	ENST00000261892.6	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)ctgdel	p.L591del	SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	591					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1759-1761)del		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1				99,3943		8,83,1930						4.1	1.0			151	234,7914		7,220,3847	no	coding	SLC24A1	NM_004727.2		15,303,5777	A1A1,A1R,RR		2.8719,2.4493,2.7317				333,11857				SO:0001651	inframe_deletion	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65918177_65918179delCTG	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1759_1761delCTG	15.37:g.65918186_65918188delCTG	ENSP00000261892:p.Leu591del					SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del	p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			2	2046_2048	+			591					O43485|O75184|Q17RM9	In_Frame_Del	DEL	ENST00000261892.6	37	c.1759_1761delCTG	CCDS45284.1																																																																																				0.547	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		20	460						20	460	---	---	---	---
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-	rs376357384	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2				ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1																		tttttaaactaaaaaaaaaaa	0.373													|||unknown(NO_COVERAGE)	2110	0.421326	0.4274	0.4049	5008	,	,		13748	0.4395		0.4095	False		,,,				2504	0.4182					ENST00000339094.1																			0																																																			0							g.chr15:85077360delA			15q25.2	2013-11-05	2009-12-17	2009-12-17	ENSG00000189136	ENSG00000189136			37439	pseudogene	pseudogene			"""ubiquitin-conjugating enzyme E2Q family pseudogene 1"""	UBE2QP1			Standard	NR_003661		Approved	FLJ43276	uc002bkn.1		OTTHUMG00000148662		15.37:g.85077360delA								NR_003661.2						0	1678	-									RNA	DEL	ENST00000339094.1	37																																																																																						0.373	UBE2Q2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000308970.2	NR_003661		10	34						10	34	---	---	---	---
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595|rs200021459|rs199821487	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	195	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777														3487	0.696286	0.4168	0.7824	5008	,	,		13432	0.8879		0.7654	False		,,,				2504	0.7444					ENST00000341735.3																			1	Deletion - In frame(1)	p.Q198_G205delQGQGQGQG(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(532-558)gag>g		mesoderm posterior 2 homolog (mouse)				995,777		385,225,276						0.1	0.0		dbSNP_129	3	3389,1453		1404,581,436	no	coding	MESP2	NM_001039958.1		1789,806,712	A1A1,A1R,RR		30.0083,43.8488,33.7164				4384,2230				SO:0001651	inframe_deletion	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	15.37:g.90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENSP00000342392:p.Gly195_Gln202del					MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	p.EGQGQGQGQ178del	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	533_556	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		178					Q7RTU2	In_Frame_Del	DEL	ENST00000341735.3	37	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	CCDS42078.1																																																																																				0.777	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		7	34						7	34	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.581																																						ENST00000561463.1																			0																																																			0							g.chr15:102292874_102292876delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292874_102292876delCTC														0	920_922	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.581	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		7	21						7	21	---	---	---	---
IL9RP3	729486	broad.mit.edu	37	16	81973	81974	+	RNA	INS	-	-	GTCC	rs369213970	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:81973_81974insGTCC	ENST00000568710.1	-	0	349																											ATCAGCAGGAGGCCCACCTCGT	0.614														377	0.0752796	0.2057	0.049	5008	,	,		9104	0.003		0.0437	False		,,,				2504	0.0245					ENST00000568710.1																			0																																																			0							g.chr16:81973_81974insGTCC																													16.37:g.81973_81974insGTCC														0	349	-									RNA	INS	ENST00000568710.1	37																																																																																						0.614	Z84812.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000420570.1			15	82						15	82	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		9	1426						9	1426	---	---	---	---
NAGPA	51172	broad.mit.edu	37	16	5083678	5083679	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:5083678_5083679delGC	ENST00000312251.3	-	2	156_157	c.137_138delGC	c.(136-138)cgcfs	p.R46fs	ALG1_ENST00000588623.1_5'Flank|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'UTR|NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	46					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CCCGGGGGAGGCGCGCGCGCGC	0.767																																						ENST00000312251.3																			0				endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12						c.(136-138)cfs		N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	N-Acetyl-D-glucosamine(DB00141)			96,2314		9,78,1118						-9.7	0.0			9	252,5272		19,214,2529	no	frameshift	NAGPA	NM_016256.3		28,292,3647	A1A1,A1R,RR		4.5619,3.9834,4.3862				348,7586				SO:0001589	frameshift_variant	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5083678_5083679delGC	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.137_138delGC	16.37:g.5083688_5083689delGC	ENSP00000310998:p.Arg46fs					RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs|NAGPA_ENST00000564922.1_5'UTR	p.R46fs	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN			2	156_157	-			46					B2RAS1|Q96EJ8	Frame_Shift_Del	DEL	ENST00000312251.3	37	c.137_138delGC	CCDS10527.1																																																																																				0.767	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		7	185						7	185	---	---	---	---
RABEP2	79874	broad.mit.edu	37	16	28931200	28931202	+	In_Frame_Del	DEL	CTG	CTG	-	rs373504496		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:28931200_28931202delCTG	ENST00000358201.4	-	3	925_927	c.337_339delCAG	c.(337-339)cagdel	p.Q113del	RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	113	Poly-Gln.				endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCTCACAGTCCTGCTGCTGCTGC	0.64																																					Pancreas(66;639 1284 10093 31061 49099)	ENST00000358201.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.(337-339)del		rabaptin, RAB GTPase binding effector protein 2																																				SO:0001651	inframe_deletion	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28931200_28931202delCTG	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.337_339delCAG	16.37:g.28931209_28931211delCTG	ENSP00000350934:p.Gln113del					RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del|RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del	p.Q113del	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN			3	925_927	-			113			Poly-Gln.			In_Frame_Del	DEL	ENST00000358201.4	37	c.337_339delCAG	CCDS42140.1																																																																																				0.640	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		7	362						7	362	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-	rs531337171|rs569719496	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(3127-3129)del		SET domain containing 1A																																				SO:0001651	inframe_deletion	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30982809_30982811delTCC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3127_3129delTCC	16.37:g.30982818_30982820delTCC	ENSP00000262519:p.Ser1058del						p.S1058del	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			13	3813_3815	+			1058			Ser-rich.		A6NP62|Q6PIF3|Q8TAJ6	In_Frame_Del	DEL	ENST00000262519.8	37	c.3127_3129delTCC	CCDS32435.1																																																																																				0.547	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		7	360						7	360	---	---	---	---
RP11-23E10.4	0	broad.mit.edu	37	16	33365420	33365420	+	RNA	DEL	A	A	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:33365420delA	ENST00000568520.1	-	0	249																											TACAAACTATAAAAAAACAGA	0.358																																						ENST00000568520.1																			0																																																			0							g.chr16:33365420delA																													16.37:g.33365420delA														0	249	-									RNA	DEL	ENST00000568520.1	37																																																																																						0.358	RP11-23E10.4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432134.1			10	76						10	76	---	---	---	---
ACD	65057	broad.mit.edu	37	16	67693646	67693648	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:67693646_67693648delGCA	ENST00000393919.4	-	3	815_817	c.551_553delTGC	c.(550-555)ctgcag>cag	p.L184del	PARD6A_ENST00000458121.2_5'Flank|PARD6A_ENST00000219255.3_5'Flank|PARD6A_ENST00000602551.1_5'Flank|ACD_ENST00000219251.8_In_Frame_Del_p.L181del			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	184					intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.L181delL(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCGCAGTCCTGCAGCAGCAGCAG	0.65																																						ENST00000219251.8																			1	Deletion - In frame(1)	p.L181delL(1)	large_intestine(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(541-546)cag>c		adrenocortical dysplasia homolog (mouse)																																				SO:0001651	inframe_deletion	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67693646_67693648delGCA	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.551_553delTGC	16.37:g.67693655_67693657delGCA	ENSP00000377496:p.Leu184del					ACD_ENST00000393919.4_In_Frame_Del_p.LQ184del	p.LQ181del	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	3	873_875	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	184					Q562H5|Q9H8F9	In_Frame_Del	DEL	ENST00000393919.4	37	c.542_544delTGC	CCDS42181.1																																																																																				0.650	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		12	945						12	945	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438																																						ENST00000429810.2																			0																																																			0							g.chr16:74372915delT																													16.37:g.74372915delT														0	1404	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.438	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			12	15						12	15	---	---	---	---
FKBP10	60681	broad.mit.edu	37	17	39975559	39975559	+	Frame_Shift_Del	DEL	C	C	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:39975559delC	ENST00000321562.4	+	5	929	c.825delC	c.(823-825)ctcfs	p.L275fs	FKBP10_ENST00000544340.1_5'UTR	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	275					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CGCTGGAGCTCCCCCCCGGCT	0.632																																						ENST00000321562.4																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(823-825)ctfs		FK506 binding protein 10, 65 kDa				27,6,4231		0,0,27,3,0,2102	52.0	57.0	55.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene		1.8	0.4	17	dbSNP_133	55	15,9,8230		0,0,15,2,5,4105	no	codingComplex	FKBP10	NM_021939.3		0,0,42,5,5,6207	A1A1,A1A2,A1R,A2A2,A2R,RR		0.2908,0.7739,0.4553			39975559	42,15,12461	2203	4300	6503	SO:0001589	frameshift_variant	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39975559delC	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.825delC	17.37:g.39975559delC	ENSP00000317232:p.Leu275fs					FKBP10_ENST00000544340.1_5'UTR	p.L275fs	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	5	929	+		Breast(137;0.00122)	275					Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Frame_Shift_Del	DEL	ENST00000321562.4	37	c.825delC	CCDS11409.1																																																																																				0.632	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		7	678						7	678	---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49077041	49077041	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:49077041delT	ENST00000262013.7	-	14	1853	c.1645delA	c.(1645-1647)aggfs	p.R549fs	SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	549					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.R535fs*28(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			ATGCTTGACCTTTTTTTTTCC	0.323																																						ENST00000262013.7																			1	Deletion - Frameshift(1)	p.R535fs*28(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(1645-1647)ggfs		sperm associated antigen 9							158.0	136.0	144.0					17																	49077041		2203	4300	6503	SO:0001589	frameshift_variant	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49077041delT	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1645delA	17.37:g.49077041delT	ENSP00000262013:p.Arg549fs					SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs	p.R549fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		14	1853	-			549					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Frame_Shift_Del	DEL	ENST00000262013.7	37	c.1645delA	CCDS45740.1																																																																																				0.323	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		15	284						15	284	---	---	---	---
RP11-178C3.1	0	broad.mit.edu	37	17	58050857	58050857	+	IGR	DEL	G	G	-	rs375748922		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:58050857delG	ENST00000591035.1	+	0	481				RP11-178C3.2_ENST00000586209.1_lincRNA																							TTTTTTTTTTGGCAGTTTTTA	0.423																																						ENST00000586209.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:58050857delG																													17.37:g.58050857delG														0	158	+									RNA	DEL	ENST00000591035.1	37																																																																																						0.423	RP11-178C3.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000449157.1			9	51						9	51	---	---	---	---
FAM210A	125228	broad.mit.edu	37	18	13681751	13681751	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr18:13681751delT	ENST00000322247.3	-	3	713	c.326delA	c.(325-327)aagfs	p.K109fs	FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Frame_Shift_Del_p.K109fs	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	109						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.K109fs*29(1)									AGGCTCTTCCTTTTTTTCCGG	0.433																																						ENST00000322247.3																			1	Deletion - Frameshift(1)	p.K109fs*29(1)	large_intestine(1)								c.(325-327)agfs		family with sequence similarity 210, member A																																				SO:0001589	frameshift_variant	125228					integral to membrane		g.chr18:13681751delT	AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 19"""	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.326delA	18.37:g.13681751delT	ENSP00000323635:p.Lys109fs					FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Frame_Shift_Del_p.K109fs	p.K109fs	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN			3	713	-			109					D3DUJ4	Frame_Shift_Del	DEL	ENST00000322247.3	37	c.326delA	CCDS11866.1																																																																																				0.433	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1	NM_152352		7	785						7	785	---	---	---	---
NEDD4L	23327	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(205-210)ctt>ct		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	0				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55992284_55992286delTCC	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del					NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del	p.LP69del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			9	807_809	+			190			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.207_209delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			7	840						7	840	---	---	---	---
LRFN3	79414	broad.mit.edu	37	19	36430924	36430924	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:36430924delT	ENST00000588831.1	+	3	1651	c.597delT	c.(595-597)gctfs	p.A199fs	LRFN3_ENST00000246529.3_Frame_Shift_Del_p.A199fs			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	199					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCGCCGGCGCTTTTTCCCGCC	0.677																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(595-597)gcfs		leucine rich repeat and fibronectin type III domain containing 3							68.0	84.0	79.0					19																	36430924		2195	4280	6475	SO:0001589	frameshift_variant	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36430924delT	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.597delT	19.37:g.36430924delT	ENSP00000466989:p.Ala199fs					LRFN3_ENST00000246529.3_Frame_Shift_Del_p.A199fs	p.A199fs			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	1651	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		199					Q6UY10	Frame_Shift_Del	DEL	ENST00000588831.1	37	c.597delT	CCDS12483.1																																																																																				0.677	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		9	1533						9	1533	---	---	---	---
FAM98C	147965	broad.mit.edu	37	19	38899416	38899416	+	Frame_Shift_Del	DEL	G	G	-	rs375320861		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:38899416delG	ENST00000252530.5	+	8	963	c.944delG	c.(943-945)cggfs	p.R315fs	FAM98C_ENST00000588262.1_Frame_Shift_Del_p.P181fs|FAM98C_ENST00000343358.7_Frame_Shift_Del_p.R233fs	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	315								p.R315L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTTCCAGACCGGGGGGGCCGC	0.562																																						ENST00000252530.5																			1	Substitution - Missense(1)	p.R315L(1)	lung(1)	endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(943-945)cgfs		family with sequence similarity 98, member C				4,25,3497		0,0,4,12,1,1746	57.0	62.0	61.0			4.8	1.0	19		62	10,59,7735		0,0,10,27,5,3860	no	codingComplex	FAM98C	NM_174905.3		0,0,14,39,6,5606	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8842,0.8225,0.865			38899416	14,84,11232	1832	4072	5904	SO:0001589	frameshift_variant	147965							g.chr19:38899416delG		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.944delG	19.37:g.38899416delG	ENSP00000252530:p.Arg315fs					FAM98C_ENST00000588262.1_Frame_Shift_Del_p.P181fs|FAM98C_ENST00000343358.7_Frame_Shift_Del_p.R233fs	p.R315fs	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	963	+	all_cancers(60;3.95e-06)		315					A6NMW3|Q66K45	Frame_Shift_Del	DEL	ENST00000252530.5	37	c.944delG	CCDS42562.1																																																																																				0.562	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		8	668						8	668	---	---	---	---
ZFP36	7538	broad.mit.edu	37	19	39898948	39898950	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:39898948_39898950delCAC	ENST00000248673.3	+	2	648_650	c.590_592delCAC	c.(589-594)tcacca>tca	p.P201del	MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_In_Frame_Del_p.P207del	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	201					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCGGACCTCACCACCACCACC	0.685																																					NSCLC(67;1164 1324 12056 21056 30097)	ENST00000597629.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(607-612)tca>t		ZFP36 ring finger protein				17,4235		5,7,2114						3.3	0.1			74	14,8216		2,10,4103	no	coding	ZFP36	NM_003407.2		7,17,6217	A1A1,A1R,RR		0.1701,0.3998,0.2484				31,12451				SO:0001651	inframe_deletion	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39898948_39898950delCAC	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.590_592delCAC	19.37:g.39898957_39898959delCAC	ENSP00000248673:p.Pro201del					ZFP36_ENST00000248673.3_In_Frame_Del_p.SP197del	p.SP203del			P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	682_684	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		197					B2RA54	In_Frame_Del	DEL	ENST00000248673.3	37	c.608_610delCAC																																																																																					0.685	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				7	1570						7	1570	---	---	---	---
PRX	57716	broad.mit.edu	37	19	40900180	40900182	+	In_Frame_Del	DEL	TCC	TCC	-	rs139624657|rs377069149|rs142743305		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:40900180_40900182delTCC	ENST00000324001.7	-	7	4347_4349	c.4077_4079delGGA	c.(4075-4080)gaggaa>gaa	p.1359_1360EE>E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1359	Poly-Glu.		Missing. {ECO:0000269|PubMed:11133365}.		axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGCcctcttcctcctcctcct	0.695																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(4075-4080)gaa>ga		periaxin																																				SO:0001651	inframe_deletion	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40900180_40900182delTCC	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.4077_4079delGGA	19.37:g.40900189_40900191delTCC	ENSP00000326018:p.Glu1361del					PRX_ENST00000291825.7_3'UTR	p.EE1359del	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	4347_4349	-			1359		Missing.	Poly-Glu.		Q9BXL9|Q9HCF2	In_Frame_Del	DEL	ENST00000324001.7	37	c.4077_4079delGGA	CCDS33028.1																																																																																				0.695	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		10	163						10	163	---	---	---	---
PLAUR	5329	broad.mit.edu	37	19	44174235	44174237	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:44174235_44174237delAGC	ENST00000340093.3	-	1	265_267	c.36_38delGCT	c.(34-39)ctgctc>ctc	p.12_13LL>L	PLAUR_ENST00000601723.1_In_Frame_Del_p.12_13LL>L|PLAUR_ENST00000339082.3_In_Frame_Del_p.12_13LL>L|PLAUR_ENST00000221264.4_In_Frame_Del_p.12_13LL>L	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	12					attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCAGGTGTGGagcagcagcagca	0.66																																						ENST00000221264.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20						c.(34-39)ctc>ct		plasminogen activator, urokinase receptor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)																																			SO:0001651	inframe_deletion	5329				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	g.chr19:44174235_44174237delAGC		CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"""CD molecules"""	9053	protein-coding gene	gene with protein product	"""urokinase-type plasminogen activator (uPA) receptor"", ""urokinase plasminogen activator surface receptor"""	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.36_38delGCT	19.37:g.44174244_44174246delAGC	ENSP00000339328:p.Leu13del					PLAUR_ENST00000339082.3_In_Frame_Del_p.LL12del|PLAUR_ENST00000340093.3_In_Frame_Del_p.LL12del|PLAUR_ENST00000601723.1_In_Frame_Del_p.LL12del	p.LL12del	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN			1	462_464	-		Prostate(69;0.0153)	12					A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	In_Frame_Del	DEL	ENST00000340093.3	37	c.36_38delGCT	CCDS12628.1																																																																																				0.660	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1	NM_002659		7	558						7	558	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	CCT	-	rs62639328|rs557359374	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:46299165_46299167delCCT	ENST00000221538.3	-	6	2256_2258	c.2114_2116delAGG	c.(2113-2118)gagggc>ggc	p.E705del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.E441del|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2113-2118)ggc>g		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001651	inframe_deletion	81492					intracellular		g.chr19:46299165_46299167delCCT	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2114_2116delAGG	19.37:g.46299174_46299176delCCT	ENSP00000221538:p.Glu705del					RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del	p.EG705del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			6	2256_2258	-			705			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Del	DEL	ENST00000221538.3	37	c.2114_2116delAGG	CCDS12675.1																																																																																				0.586	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			16	866						16	866	---	---	---	---
FLT3LG	2323	broad.mit.edu	37	19	49978960	49978962	+	In_Frame_Del	DEL	CTG	CTG	-	rs372504451		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:49978960_49978962delCTG	ENST00000594009.1	+	2	125_127	c.46_48delCTG	c.(46-48)ctgdel	p.L20del	FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000204637.2_5'UTR	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	20					embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTATCTCCTCCTGCTGCTGCTGC	0.621																																						ENST00000594009.1																			0				large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(46-48)del		fms-related tyrosine kinase 3 ligand																																				SO:0001651	inframe_deletion	0				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	g.chr19:49978960_49978962delCTG	U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"""Endogenous ligands"""	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.46_48delCTG	19.37:g.49978969_49978971delCTG	ENSP00000469613:p.Leu20del					FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595510.1_5'UTR	p.L20del	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	2	125_127	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	20					A0AVC2|B9EGH2|Q05C96	In_Frame_Del	DEL	ENST00000594009.1	37	c.46_48delCTG	CCDS12767.1																																																																																				0.621	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1			9	518						9	518	---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54780707	54780709	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:54780707_54780709delGAG	ENST00000391749.4	-	10	1706_1708	c.1435_1437delCTC	c.(1435-1437)ctcdel	p.L479del	LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000391748.1_In_Frame_Del_p.L478del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000471216.1_5'Flank	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	479					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.L479L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggatgaggaagaggaggaggagg	0.611																																						ENST00000391748.1																			1	Substitution - coding silent(1)	p.L479L(1)	lung(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1432-1434)del		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2																																				SO:0001651	inframe_deletion	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54780707_54780709delGAG	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1435_1437delCTC	19.37:g.54780716_54780718delGAG	ENSP00000375629:p.Leu479del					LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del	p.L478del	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1559_1561	-	Ovarian(34;0.19)		479					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	In_Frame_Del	DEL	ENST00000391749.4	37	c.1432_1434delCTC	CCDS12886.1																																																																																				0.611	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			17	632						17	632	---	---	---	---
BRSK1	84446	broad.mit.edu	37	19	55815036	55815036	+	Splice_Site	DEL	C	C	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:55815036delC	ENST00000309383.1	+	12	1405	c.1128delC	c.(1126-1128)gac>ga	p.D376fs	BRSK1_ENST00000590333.1_Splice_Site_p.D392fs|BRSK1_ENST00000326848.7_Splice_Site_p.D71fs	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	376					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.R379fs*9(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GTCCCTCAGACCCCCCCCGGA	0.582																																						ENST00000309383.1																			2	Deletion - Frameshift(2)	p.R379fs*9(2)	large_intestine(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.e12-1		BR serine/threonine kinase 1							54.0	63.0	60.0					19																	55815036		2203	4300	6503	SO:0001630	splice_region_variant	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55815036delC	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1127-1C>-	19.37:g.55815036delC						BRSK1_ENST00000590333.1_Splice_Site_p.D392_splice|BRSK1_ENST00000326848.7_Splice_Site_p.D71_splice	p.D376_splice	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	12	1405	+		Renal(1328;0.245)	376					F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Splice_Site	DEL	ENST00000309383.1	37	c.1126_splice	CCDS12921.1																																																																																				0.582	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430	Frame_Shift_Del	12	508						12	508	---	---	---	---
DDX27	55661	broad.mit.edu	37	20	47858504	47858504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr20:47858504delA	ENST00000371764.4	+	17	2074	c.2065delA	c.(2065-2067)aaafs	p.K691fs	DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron|ZNFX1_ENST00000371754.4_Intron	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	691						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.K691fs*4(3)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAAGGATGCCAAAAAAAAGGG	0.488																																						ENST00000371764.4																			3	Deletion - Frameshift(3)	p.K691fs*4(3)	large_intestine(2)|ovary(1)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(2065-2067)aafs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							67.0	72.0	70.0					20																	47858504		2203	4300	6503	SO:0001589	frameshift_variant	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47858504delA	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.2065delA	20.37:g.47858504delA	ENSP00000360828:p.Lys691fs					ZNFX1_ENST00000371754.4_Intron|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron	p.K691fs	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		17	2074	+			691					A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Frame_Shift_Del	DEL	ENST00000371764.4	37	c.2065delA	CCDS13416.1																																																																																				0.488	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			8	543						8	543	---	---	---	---
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr20:56099187delT	ENST00000608263.1	-	1	736	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000608425.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000609232.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000481655.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608158.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000608440.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(73-75)aafs		CCCTC-binding factor (zinc finger protein)-like							231.0	258.0	249.0					20																	56099187		2203	4300	6503	SO:0001589	frameshift_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099187delT		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.75delA	20.37:g.56099187delT	ENSP00000476783:p.Lys25fs					CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs	p.K25fs			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	736	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		25					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Frame_Shift_Del	DEL	ENST00000608263.1	37	c.75delA	CCDS13459.1																																																																																				0.502	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		10	1642						10	1642	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61512380	61512381	+	Frame_Shift_Ins	INS	-	-	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr20:61512380_61512381insG	ENST00000266070.4	-	16	5252_5253	c.4927_4928insC	c.(4927-4929)cgcfs	p.R1643fs	DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.R1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1643					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTGGCGGGGCGGGTGCCCTCC	0.728																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4927-4929)cccfs		death inducer-obliterator 1																																				SO:0001589	frameshift_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512380_61512381insG	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4928dupC	20.37:g.61512383_61512383dupG	ENSP00000266070:p.Arg1643fs					DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs	p.P1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5252_5253	-	Breast(26;5.68e-08)		1643					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Ins	INS	ENST00000266070.4	37	c.4927_4928insC	CCDS33506.1																																																																																				0.728	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		7	161						7	161	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11097726	11097726	+	RNA	DEL	G	G	-	rs371150550		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr21:11097726delG	ENST00000470054.1	-	0	223							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCCAGTTTCAGCGAAGGCACT	0.587																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11097726delG	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11097726delG												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	223	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.587	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		11	110						11	110	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17127506	17127507	+	lincRNA	INS	-	-	A	rs546582747|rs190702005	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr22:17127506_17127507insA	ENST00000426585.1	+	0	442									transmembrane phosphatase with tensin homology pseudogene 1																		AGGGCCTAGAGAAAAAAAAAAT	0.421													|||unknown(NO_COVERAGE)	11	0.00219649	0.0023	0.0014	5008	,	,		23257	0.001		0.001	False		,,,				2504	0.0051					ENST00000426585.1																			0																																																			0							g.chr22:17127506_17127507insA			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17127516_17127516dupA														0	442	+									RNA	INS	ENST00000426585.1	37																																																																																						0.421	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		8	280						8	280	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20918916	20918918	+	In_Frame_Del	DEL	CAG	CAG	-	rs374794651		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr22:20918916_20918918delCAG	ENST00000263205.7	+	6	700_702	c.631_633delCAG	c.(631-633)cagdel	p.Q218del	MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	218	Poly-Gln.			Missing (in Ref. 4; CAG30423). {ECO:0000305}.	gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagctccagcagcagcagc	0.567											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(631-633)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918916_20918918delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.631_633delCAG	22.37:g.20918925_20918927delCAG	ENSP00000263205:p.Gln218del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del	p.Q218del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	700_702	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	218	Missing (in Ref. 4; CAG30423).		Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.631_633delCAG	CCDS33602.1																																																																																				0.567	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		8	175						8	175	---	---	---	---
ZNRF3	84133	broad.mit.edu	37	22	29445819	29445821	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr22:29445819_29445821delCAG	ENST00000544604.2	+	8	1825_1827	c.1650_1652delCAG	c.(1648-1653)gacagc>gac	p.S557del	ZNRF3_ENST00000402174.1_In_Frame_Del_p.S457del|ZNRF3_ENST00000406323.3_In_Frame_Del_p.S457del|ZNRF3_ENST00000332811.4_In_Frame_Del_p.S457del	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	557					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CAGgcagcgacagcagcagcagc	0.66																																						ENST00000544604.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1648-1653)gac>ga		zinc and ring finger 3			,	78,3554		2,74,1740					,	5.4	1.0			16	199,7043		14,171,3436	no	coding,coding	ZNRF3	NM_032173.3,NM_001206998.1	,	16,245,5176	A1A1,A1R,RR		2.7479,2.1476,2.5474	,	,		277,10597				SO:0001651	inframe_deletion	84133					integral to membrane	zinc ion binding	g.chr22:29445819_29445821delCAG	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1650_1652delCAG	22.37:g.29445828_29445830delCAG	ENSP00000443824:p.Ser557del					ZNRF3_ENST00000402174.1_In_Frame_Del_p.DS450del|ZNRF3_ENST00000406323.3_In_Frame_Del_p.DS450del|ZNRF3_ENST00000332811.4_In_Frame_Del_p.DS450del	p.DS550del	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			8	1825_1827	+			550					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	In_Frame_Del	DEL	ENST00000544604.2	37	c.1650_1652delCAG	CCDS56225.1																																																																																				0.660	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		7	243						7	243	---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr22:30742328_30742330delCTG	ENST00000215793.8	-	3	518_520	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606																																						ENST00000215793.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(364-366)del		splicing factor 3a, subunit 1, 120kDa																																				SO:0001651	inframe_deletion	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30742328_30742330delCTG	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.364_366delCAG	22.37:g.30742337_30742339delCTG	ENSP00000215793:p.Gln122del					SF3A1_ENST00000439242.1_Intron	p.Q122del	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN			3	518_520	-			122			Poly-Gln.		E9PAW1	In_Frame_Del	DEL	ENST00000215793.8	37	c.364_366delCAG	CCDS13875.1																																																																																				0.606	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		11	735						11	735	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)gagdel	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2785-2787)del		myosin, heavy chain 9, non-muscle																																				SO:0001651	inframe_deletion	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36696948_36696950delCTC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2785_2787delGAG	22.37:g.36696957_36696959delCTC	ENSP00000216181:p.Glu929del						p.E929del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			22	3015_3017	-			929					A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.2785_2787delGAG	CCDS13927.1																																																																																				0.665	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		14	819						14	819	---	---	---	---
SH3KBP1	30011	broad.mit.edu	37	X	19606764	19606767	+	Frame_Shift_Del	DEL	GTGT	GTGT	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:19606764_19606767delGTGT	ENST00000397821.3	-	12	1582_1585	c.1292_1295delACAC	c.(1291-1296)cacaccfs	p.HT431fs	SH3KBP1_ENST00000379716.1_Frame_Shift_Del_p.HT193fs|SH3KBP1_ENST00000541422.1_Frame_Shift_Del_p.HT170fs|SH3KBP1_ENST00000379697.3_Frame_Shift_Del_p.HT475fs|SH3KBP1_ENST00000379698.4_Frame_Shift_Del_p.HT394fs	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	431					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GCAGTACCTGGTGTGTGTCAGCGG	0.618																																						ENST00000397821.3																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						c.(1291-1296)ccfs		SH3-domain kinase binding protein 1																																				SO:0001589	frameshift_variant	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19606764_19606767delGTGT	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1292_1295delACAC	X.37:g.19606768_19606771delGTGT	ENSP00000380921:p.His431fs					SH3KBP1_ENST00000379697.3_Frame_Shift_Del_p.HT475fs|SH3KBP1_ENST00000541422.1_Frame_Shift_Del_p.HT170fs|SH3KBP1_ENST00000379698.4_Frame_Shift_Del_p.HT394fs|SH3KBP1_ENST00000379716.1_Frame_Shift_Del_p.HT193fs	p.HT431fs	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN			12	1582_1585	-			431					B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Frame_Shift_Del	DEL	ENST00000397821.3	37	c.1292_1295delACAC	CCDS14193.1																																																																																				0.618	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		7	867						7	867	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:21627678_21627680delGAG	ENST00000379510.3	+	20	2671_2673	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000425654.2_In_Frame_Del_p.E856del	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886	Poly-Glu.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2545-2547)del		connector enhancer of kinase suppressor of Ras 2																																				SO:0001651	inframe_deletion	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627678_21627680delGAG	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2635_2637delGAG	X.37:g.21627687_21627689delGAG	ENSP00000368824:p.Glu886del					CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del	p.E856del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	3025_3027	+			886					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	In_Frame_Del	DEL	ENST00000379510.3	37	c.2545_2547delGAG	CCDS14198.1																																																																																				0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		7	194						7	194	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	lincRNA	DEL	AC	AC	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GCCACACATGACACACACACAC	0.47																																						ENST00000604411.1																			0																	21,2160		6,4,5,902,352						-3.8	0.0			146	63,3745		10,20,23,1404,917	no	intergenic				16,24,28,2306,1269	A1A1,A1R,A1,RR,R		1.6544,0.9629,1.4026				84,5905						0							g.chrX:73047124_73047125delAC			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047134_73047135delAC						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	35085_35086	+									RNA	DEL	ENST00000604411.1	37																																																																																						0.470	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		14	610						14	610	---	---	---	---
ARMCX3	51566	broad.mit.edu	37	X	100880152	100880154	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:100880152_100880154delTGA	ENST00000341189.4	+	5	1049_1051	c.183_185delTGA	c.(181-186)tctgat>tct	p.D66del	ARMCX3_ENST00000537169.1_In_Frame_Del_p.D66del|ARMCX3-AS1_ENST00000454228.1_RNA|ARMCX3_ENST00000471229.2_In_Frame_Del_p.D66del|RP4-545K15.5_ENST00000564612.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	66					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATGACTGGTCTGATGATGATGAT	0.517																																						ENST00000341189.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(181-186)tct>tc		armadillo repeat containing, X-linked 3																																				SO:0001651	inframe_deletion	51566					integral to membrane	binding	g.chrX:100880152_100880154delTGA	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.183_185delTGA	X.37:g.100880161_100880163delTGA	ENSP00000340672:p.Asp66del					ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del|ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del	p.SD61del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN			5	1049_1051	+			61					Q53HC6|Q7LCF5|Q9NPE4	In_Frame_Del	DEL	ENST00000341189.4	37	c.183_185delTGA	CCDS14489.1																																																																																				0.517	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		8	1100						8	1100	---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110494259	110494259	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:110494259delA	ENST00000324068.1	-	8	1211	c.1044delT	c.(1042-1044)tttfs	p.F348fs	CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	348	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCTTTCGGCCAAAAATAGGGT	0.488																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(1042-1044)ttfs		calpain 6							331.0	293.0	306.0					X																	110494259		2203	4300	6503	SO:0001589	frameshift_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494259delA	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1044delT	X.37:g.110494259delA	ENSP00000317214:p.Phe348fs					CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs	p.F348fs	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			8	1211	-			348			Domain III.		D3DUY7|Q9UEQ1|Q9UJA8	Frame_Shift_Del	DEL	ENST00000324068.1	37	c.1044delT	CCDS14555.1																																																																																				0.488	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			8	2087						8	2087	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-	rs372076984|rs144357389		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1447-1452)agc>ag		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994639_140994641delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1449_1451delCTC	X.37:g.140994648_140994650delCTC	ENSP00000285879:p.Ser489del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS487del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1735_1737	+	Acute lymphoblastic leukemia(192;6.56e-05)		487					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1449_1451delCTC	CCDS35417.1																																																																																				0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		9	1473						9	1473	---	---	---	---
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.S62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(184-189)tgc>t		melanoma antigen family A, 10																																				SO:0001651	inframe_deletion	4109							g.chrX:151303906_151303908delAGG		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.185_187delCCT	X.37:g.151303915_151303917delAGG	ENSP00000359347:p.Ser62del					RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del	p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	501_503	-	Acute lymphoblastic leukemia(192;6.56e-05)		62			Poly-Ser.			In_Frame_Del	DEL	ENST00000370323.4	37	c.185_187delCCT	CCDS14705.1																																																																																				0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		9	568						9	568	---	---	---	---
ABCD1	215	broad.mit.edu	37	X	152991397	152991399	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:152991397_152991399delTCC	ENST00000218104.3	+	1	1075_1077	c.676_678delTCC	c.(676-678)tccdel	p.S226del	BCAP31_ENST00000441714.1_5'Flank|BCAP31_ENST00000345046.6_5'Flank|BCAP31_ENST00000458587.2_5'Flank|ABCD1_ENST00000370129.4_In_Frame_Del_p.S41del	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	226	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGTGACTTCCTACACCCTGC	0.685																																						ENST00000218104.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	GRCh37	CD000904	ABCD1	D		c.(676-678)del		ATP-binding cassette, sub-family D (ALD), member 1																																				SO:0001651	inframe_deletion	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:152991397_152991399delTCC	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.676_678delTCC	X.37:g.152991397_152991399delTCC	ENSP00000218104:p.Ser226del					ABCD1_ENST00000370129.4_In_Frame_Del_p.S41del	p.S226del	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN			1	1075_1077	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		226			ABC transmembrane type-1.		Q6GTZ2	In_Frame_Del	DEL	ENST00000218104.3	37	c.676_678delTCC	CCDS14728.1																																																																																				0.685	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		9	675						9	675	---	---	---	---
MECP2	4204	broad.mit.edu	37	X	153363100	153363102	+	5'UTR	DEL	GCG	GCG	-	rs587783129		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:153363100_153363102delGCG	ENST00000303391.6	-	0	110_112				MECP2_ENST00000407218.1_5'UTR|MECP2_ENST00000453960.2_In_Frame_Del_p.7_8AA>A	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2						adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGCTCGGCgcggcggcggcgg	0.778																																						ENST00000453960.2																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(19-24)gcg>gc		methyl CpG binding protein 2 (Rett syndrome)			,	87,803		9,38,31,307,151					,	4.0	1.0			5	256,2106		24,107,101,720,559	no	utr-5,coding	MECP2	NM_004992.3,NM_001110792.1	,	33,145,132,1027,710	A1A1,A1R,A1,RR,R		10.8383,9.7753,10.5474	,	,		343,2909				SO:0001623	5_prime_UTR_variant	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153363100_153363102delGCG	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.-140CGC>-	X.37:g.153363109_153363111delGCG						MECP2_ENST00000303391.6_5'UTR|MECP2_ENST00000407218.1_5'UTR	p.AA7del	NM_001110792.1	NP_001104262.1	P51608	MECP2_HUMAN			1	75_77	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		0					O15233|Q6QHH9|Q7Z384	In_Frame_Del	DEL	ENST00000303391.6	37	c.21_23delCGC	CCDS14741.1																																																																																				0.778	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		9	190						9	190	---	---	---	---
RPL10	6134	broad.mit.edu	37	X	153627860	153627860	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:153627860delA	ENST00000369817.2	+	5	691	c.115delA	c.(115-117)aaafs	p.K40fs	SNORA70_ENST00000384436.1_RNA|RPL10_ENST00000424325.2_Frame_Shift_Del_p.K40fs|RPL10_ENST00000406022.2_5'UTR			P27635	RL10_HUMAN	ribosomal protein L10	40					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGGGGCGGAAAAAGGCAAA	0.512											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000424325.2																			0				large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(115-117)aafs		ribosomal protein L10							134.0	130.0	131.0					X																	153627860		2203	4300	6503	SO:0001589	frameshift_variant	6134				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	g.chrX:153627860delA	AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"""L ribosomal proteins"""	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.115delA	X.37:g.153627860delA	ENSP00000358832:p.Lys40fs		OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1757	RPL10_ENST00000406022.2_5'UTR|RPL10_ENST00000369817.2_Frame_Shift_Del_p.K40fs	p.K40fs	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN			4	303	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		40					A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Frame_Shift_Del	DEL	ENST00000369817.2	37	c.115delA	CCDS14746.1																																																																																				0.512	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5	NM_006013		7	1026						7	1026	---	---	---	---
RNA5-8SP6	100873336	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-	rs373540942		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrY:10037863delC	ENST00000515896.1	+	0	100									RNA, 5.8S ribosomal pseudogene 6																		ATCGACACTTCGAACGCACTT	0.552																																						ENST00000515896.1																			0																																																			0							g.chrY:10037863delC			Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037863delC														0	100	+									RNA	DEL	ENST00000515896.1	37																																																																																						0.552	RNA5-8SP6-201	KNOWN	basic	rRNA	rRNA				12	104						12	104	---	---	---	---
